Comprehensive Reproductive Screen with FMR1 repeat expansion New

Summary

Is a 461-gene test for individuals who want information about their chances of having a child with an autosomal recessive or X-linked genetic condition. This type of test is sometimes called carrier screening.

This test includes the analysis of the cytosine-guanine-guanine (CGG) repeat region in the 5’-untranslated region of the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene using PCR amplification and fragment size analysis to determine CGG repeat length. Please note that, to ensure proper result of the repeat expansion analysis we require sample type to be blood, buccal, or DNA extracted from either of those two sample types.

Analysis methods
  • PLUS
Availability
4 weeks
Number of genes
461
Test code
CS0101
* The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

Summary

The Blueprint Genetics Comprehensive Reproductive Screen with FMR1 repeat expansion (test code CS0101):

Read about our accreditations, certifications and CE-marked IVD medical devices here.

The strengths of this test include:
-CAP-accredited laboratory
-CLIA-certified personnel performing clinical testing in a CLIA-certified laboratory
-Powerful sequencing technologies, advanced target enrichment methods and precision bioinformatics pipelines ensure superior analytical performance
-Careful construction of clinically effective and scientifically justified gene panels
-Some of the panels include the whole mitochondrial genome (please see the Panel Content section)
-Our Nucleus online portal providing transparent and easy access to quality and performance data at the patient level
-~2,000 noncoding disease-causing variants in our clinical grade NGS assay for panels (please see ‘Noncoding disease-causing variants covered by this panel’ in the Panel Content section)
-Our rigorous variant classification scheme
-Our systematic clinical interpretation workflow using proprietary software enabling accurate and traceable processing of NGS data
-Our comprehensive clinical statements

Sample Requirements

  • Blood (min. 1ml) in an EDTA tube
  • Extracted DNA, min. 2 μg in TE buffer or equivalent
  • Saliva (Please see Sample Requirements for accepted saliva kits)

Label the sample tube with your patient’s name, date of birth and the date of sample collection.

We do not accept DNA samples isolated from formalin-fixed paraffin-embedded (FFPE) tissue. In addition, if the patient is affected with a hematological malignancy, DNA extracted from a non-hematological source (e.g. skin fibroblasts) is strongly recommended.

Please note that, in rare cases, mitochondrial genome (mtDNA) variants may not be detectable in blood or saliva in which case DNA extracted from post-mitotic tissue such as skeletal muscle may be a better option.

Read more about our sample requirements here.

The Comprehensive Reproductive Screen with FMR1 repeat expansion test is intended for healthy individuals interested in carrier screening. Carrier screening gives individuals and/or couples an estimate of their chances of having a child affected with an autosomal recessive or X-linked condition. With this information, individuals or couples can discuss with their healthcare provider to make informed decisions about their reproductive options with medical advice. This might include choosing prenatal diagnosis, preimplantation genetic testing, use of a donor gamete/embryo, adoption, no testing, etc.

Comprehensive Reproductive Screen with FMR1 repeat expansion test includes screening for
-106 out of 113 disorders recommended by the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics (ACMG) (PMID: 34285390)
-The following disorders are not included due to limitations in variant detection by short-read NGS methods: alpha-methylacetoacetic aciduria (ACAT1), Fragile XE syndrome (AFF2), congenital adrenal insufficiency (CYP11A1), hemophilia A (F8), Friedreich ataxia (FXN), Schindler disease (NAGA), Ehlers-Danlos syndrome, classic-like (TNXB)
-Some serious childhood-onset conditions

Only variants classified as pathogenic or likely pathogenic based on an ACMG/AMP classification scheme will be reported.

FMR1 repeat expansion reporting includes findings consistent with intermediate CGG repeat length, premutation, and full mutation (PMID: 23765048).

Genes in the Comprehensive Reproductive Screen with FMR1 repeat expansion

AAAS, AARS2, ABCA3, ABCB11, ABCC6*, ABCC8, ABCD1*, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACOX1, ACSF3, ADA, ADAMTS2#, ADAMTSL4, ADGRG1, ADGRV1, AGA, AGL, AGPS, AGXT, AHI1, AIFM1, AIRE, ALDH3A2, ALDH7A1, ALDOB, ALG6, ALMS1*, ALPL, AMT, ANO10, AP1S1, AP3B1, AR, ARG1, ARL6, ARSA, ARSB, ARX#, ASL, ASNS*, ASPA, ASS1, ATM, ATP13A2, ATP6V1B1, ATP7A, ATP7B, ATRX, AVPR2, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCKDHA, BCKDHB, BCS1L, BLM, BRAT1, BSND, BTD, C10ORF2, CANT1, CAPN3, CASQ2, CBS, CC2D2A#, CCDC88C, CD40, CD40LG, CDH23, CECR1, CENPJ, CEP290*, CERKL, CFTR, CHAT, CHM#, CHRNE, CIITA, CLCN1, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGA3, CNGB3, COL27A1, COL4A3, COL4A4, COL4A5, COL7A1, COLQ, CPS1, CPT1A, CPT2, CRB1, CTNS, CTSD, CTSF, CTSK, CYBA, CYBB, CYP11B1*, CYP11B2*, CYP17A1, CYP19A1, CYP1B1, CYP21A2*, CYP27A1, CYP27B1, CYP7B1, DBT, DCLRE1C*, DDX11*, DGAT1, DHCR7, DHDDS, DKC1, DLD, DMD, DNAH5, DNAI1, DNAI2, DOK7, DYNC2H1, DYSF, EDA, EIF2AK4, EIF2B2, EIF2B5, EMD, EPG5, ERCC2, ERCC6*, ERCC6L2, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EYS*, F11, F9, FAH, FAM161A, FANCA, FANCC, FANCE, FANCG, FANCI, FANCL, FH, FHL1*, FKRP, FKTN, FMO3, FMR1, FRAS1, G6PC, GAA, GALC, GALE, GALK1, GALNS, GALNT3, GALT, GAMT, GBA*, GBE1, GCDH, GCH1, GCSH, GFM1, GFPT1, GJB1, GJB2, GJB6, GLA, GLB1, GLDC, GLE1, GNE, GNPAT, GNPTAB, GNPTG, GNS, GORAB, GP9, GRHPR, GRIP1, HADH, HADHA, HADHB, HAMP, HAX1, HBA1*, HBA2#*, HBB, HEXA, HEXB, HFE2, HGD, HGSNAT, HLCS, HMGCL, HOGA1, HPRT1, HPS1*, HPS3, HPS4, HPS5, HPS6, HSD17B3, HSD17B4, HSD3B2, HYLS1, IDS*, IDUA, IKBKAP, IL2RG, IL7R, IQCB1, ISPD, IVD, JAK3, KCNJ1, KCTD7, KIAA0586#, KIF14, L1CAM, LAMA2, LAMA3, LAMB3, LAMC2, LARGE, LCA5, LDLR, LHX3, LIFR, LIG4, LIPA, LIPH, LOXHD1, LRP2, LRPPRC, LYST, MAN2B1, MCCC1, MCCC2, MCOLN1, MCPH1#, MED17, MEFV, MESP2, MFSD8, MID1*, MKKS, MKS1, MLC1, MMAA, MMAB, MMACHC, MMADHC, MPI, MPL, MPV17, MRE11A, MTHFR, MTM1, MTTP, MUT, MVK, MYO15A, MYO7A, NAGLU, NAGS, NBN, NCF2, NDRG1, NDUFAF5, NDUFAF6, NDUFS4, NDUFS6, NEB#*, NGLY1, NPC1, NPC2, NPHP1, NPHP3, NPHS1, NPHS2, NR0B1, NR2E3, NTRK1, OAT, OCA2, OPA3, ORC4, OTC, OTOF, PAH, PC, PCCA, PCCB#, PCDH15, PCNT, PDHA1, PDHB, PEPD, PET100, PEX1, PEX10, PEX12, PEX2, PEX26, PEX6, PEX7, PFKM, PHGDH, PHKB, PHYH, PKHD1, PLP1, PMM2, PNPO, POLG, POMGNT1, POMT1, POMT2, POR, PPT1, PRF1, PROP1, PRPS1*, PSAP, PTS, PUS1, PYGL, PYGM, QDPR, RAB23, RAG1, RAG2, RAPSN, RARS2, RDH12, RECQL4, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RPE65, RPGR, RPGRIP1, RPGRIP1L#, RS1, RTEL1, SACS, SAMHD1, SCO2, SEPSECS, SGCA, SGCB, SGCD, SGCG, SGSH, SLC12A1, SLC12A3, SLC12A6, SLC17A5, SLC19A2, SLC19A3, SLC1A4, SLC22A5, SLC25A13, SLC25A15*, SLC25A20, SLC26A2, SLC26A3, SLC26A4, SLC35A2, SLC35A3, SLC37A4, SLC39A4, SLC6A8*, SLC7A7, SMARCAL1, SMN1#*, SMPD1, SPG11, SPG7, SPINK5, SPR, SRD5A2, ST3GAL5, STAR, STS, STXBP2, SUMF1, SURF1, SYNE4, TANGO2, TAT, TBCE, TCIRG1, TCTN2, TECPR2, TECRL, TF, TFR2, TG, TGM1, TH, TMEM107, TMEM216, TMEM231, TMEM67, TMPRSS3, TPO, TPP1, TRAF3IP1, TREX1, TRIM37, TSEN2#, TSEN34, TSEN54, TSFM#, TTC37, TTC8, TTPA, TYMP, TYR*, UBR1, UNC13D, USH1C, USH2A, VPS13A, VPS13B, VPS45#, VPS53, VRK1, XPA, XPC, ZFYVE26, ZNF469, ZNHIT3#

More information about this test content: Residual risk table.

#

The gene has suboptimal coverage (means <90% of the gene’s target nucleotides are covered at >20x with mapping quality score (MQ>20) reads), and/or the gene has exons listed under Test limitations section that are not included in the panel as they are not sufficiently covered with high quality sequence reads.

*

Some, or all, of the gene is duplicated in the genome. Read more.

The sensitivity to detect variants may be limited in genes marked with an asterisk (*) or number sign (#). Due to possible limitations these genes may not be available as single gene tests.

Gene refers to the HGNC approved gene symbol; Inheritance refers to inheritance patterns such as autosomal dominant (AD), autosomal recessive (AR), mitochondrial (mi), X-linked (XL), X-linked dominant (XLD) and X-linked recessive (XLR); ClinVar refers to the number of variants in the gene classified as pathogenic or likely pathogenic in this database (ClinVar); HGMD refers to the number of variants with possible disease association in the gene listed in Human Gene Mutation Database (HGMD). The list of associated, gene specific phenotypes are generated from CGD or Mitomap databases.

Non-coding variants covered by Comprehensive Reproductive Screen with FMR1 repeat expansion

To view complete table content, scroll horizontally.

Gene Genomic location HG19 HGVS RefSeq RS-number
AAAS Chr12:53715654 c.-405C>T NM_015665.5
ABCA3 Chr16:2333457 c.3863-98C>T NM_001089.2 rs189077405
ABCA3 Chr16:2358644 c.1112-20G>A NM_001089.2 rs746701685
ABCA3 Chr16:2376495 c.-26-2A>G NM_001089.2
ABCB11 Chr2:169873328 c.77-19T>A NM_003742.2
ABCC6 Chr16:16244424 c.4403+11C>G NM_001171.5 rs72664215
ABCC6 Chr16:16256835 c.3506+15G>A NM_001171.5 rs72664302
ABCC6 Chr16:16281097 c.1780-29T>A NM_001171.5 rs72664206
ABCC6 Chr16:16284246 c.1432-22C>A NM_001171.5 rs72664297
ABCC8 Chr11:17415959 c.4412-13G>A NM_000352.3 rs1008906426
ABCC8 Chr11:17427028 c.3399+13G>A NM_000352.3 rs182340196
ABCC8 Chr11:17449501 c.2041-12C>A NM_000352.3
ABCC8 Chr11:17449510 c.2041-21G>A NM_000352.3 rs746714109
ABCC8 Chr11:17449514 c.2041-25G>A NM_000352.3
ABCC8 Chr11:17452526 c.1672-20A>G NM_000352.3
ABCC8 Chr11:17465872 c.1333-1013A>G NM_000352.3
ABCC8 Chr11:17470268 c.1177-53_1177-51delGTG NM_000352.3 rs1271038564
ABCC8 Chr11:17498513 c.-190C>G NM_000352.3
ACADM Chr1:76200457 c.388-19T>A NM_000016.4
ACADM Chr1:76211473 c.600-18G>A NM_000016.4 rs370523609
ACADVL Chr17:7123160 c.-144_-132delCCCAGCATGCCCCinsT NM_000018.3
ACADVL Chr17:7125469 c.822-27C>T NM_001270447.1 rs374911841
ACADVL Chr17:7125485 c.822-11T>G NM_001270447.1
ACADVL Chr17:7126199 c.1146+15C>T NM_001270447.1 rs202237278
ACADVL Chr17:7126948 c.1252-15A>G NM_001270447.1 rs765390290
ACADVL Chr17:7127894 c.1747+23C>T NM_001270447.1 rs147546456
ADA Chr20:43248503 c.1079-15T>A NM_000022.2 rs387906268
ADA Chr20:43249076 c.976-34G>A NM_000022.2
ADGRG1 Chr16:57673285 c.-435_-421delCAACGGTTGCCAGGG NM_001145774.1
AGL Chr1:100381954 c.4260-12A>G NM_000028.2 rs369973784
AIFM1 ChrX:129274636 c.697-44T>G NM_004208.3
AIFM1 ChrX:129299753 c.-123G>C NM_004208.3 rs724160014
ALDH3A2 Chr17:19561044 c.681-14T>A/G NM_001031806.1
ALDH3A2 Chr17:19561044 c.681-14T>A NM_001031806.1
ALDH3A2 Chr17:19561044 c.681-14T>G NM_001031806.1
ALDOB Chr9:104183575 c.*516T>A NM_000035.3
ALDOB Chr9:104197990 c.-11+1G>C NM_000035.3 rs181639417
ALDOB Chr9:104198194 NM_000035.3 rs185972191
ALG6 Chr1:63871975 c.347-13C>G NM_013339.3
ALPL Chr1:21835920 c.-195C>T NM_000478.4
ALPL Chr1:21896764 c.793-30_793-11delGGCATGTGCTGACACAGCCC NM_000478.4
AMT Chr3:49459938 c.-55C>T NM_000481.3 rs386833677
AR ChrX:66764442 c.-547C>T NM_000044.3
AR ChrX:66788676 c.1616+22072A>C NM_000044.3
AR ChrX:66905841 c.1769-11T>A NM_000044.3
AR ChrX:66942551 c.2450-118A>G NM_000044.3
AR ChrX:66942627 c.2450-42G>A NM_000044.3
ARG1 Chr6:131901748 c.306-611T>C NM_000045.3
ARSA Chr22:51064121 c.1108-12C>G NM_000487.5 rs757806374
ARSA Chr22:51064129 c.1108-20A>G NM_000487.5
ASS1 Chr9:133327601 c.-5-10C>G NM_000050.4 rs375136377
ASS1 Chr9:133332669 c.175-1119G>A NM_000050.4
ASS1 Chr9:133355236 c.773+49C>T NM_000050.4 rs763389916
ATM Chr11:108093770 c.-174A>G NM_000051.3
ATM Chr11:108094508 c.-31+595G>A NM_000051.3
ATM Chr11:108098321 c.-30-1G>T NM_000051.3 rs869312754
ATM Chr11:108138753 c.2639-384A>G NM_000051.3
ATM Chr11:108141209 c.2839-579_2839-576delAAGT NM_000051.3
ATM Chr11:108151710 c.3403-12T>A NM_000051.3 rs201370733
ATM Chr11:108158168 c.3994-159A>G NM_000051.3 rs864622543
ATM Chr11:108164028 c.4612-12A>G NM_000051.3
ATM Chr11:108179837 c.5763-1050A>G NM_000051.3 rs774925473
ATM Chr11:108214779 c.8418+681A>G NM_000051.3 rs748635985
ATP7A ChrX:77279056 c.2916+2480T>G NM_000052.5
ATP7A ChrX:77287843 c.3294+763C>G NM_000052.5
ATP7B Chr13:52518439 c.3061-12T>A NM_000053.3
ATP7B Chr13:52585551 c.-78A>C NM_000053.3
ATP7B Chr13:52585596 c.-123C>A NM_000053.3
ATP7B Chr13:52585596 c.-128_-124delAGCCG NM_000053.3
ATP7B Chr13:52585606 c.-133A>C NM_000053.3
ATP7B Chr13:52585683 c.-210A>T NM_000053.3
ATP7B Chr13:52585894 NM_000053.3 rs1484840087
ATP7B Chr13:52585897 NM_000053.3
ATP7B Chr13:52585915 c.-442G>A NM_000053.3
BBS1 Chr11:66291105 c.951+58C>T NM_024649.4
BBS4 Chr15:73001820 c.77-216delA NM_033028.4 rs113994189
BBS5 Chr2:170354110 c.619-27T>G NM_152384.2
BCKDHA Chr19:41930736 c.*223T>A NM_000709.3 rs373164531
BCS1L Chr2:219524871 c.-147A>G NM_004328.4
BCS1L Chr2:219525123 c.-50+155T>A NM_004328.4 rs386833855
BTD Chr3:15683399 c.310-15delT NM_000060.2 rs587783008
BTD Chr3:15687154 c.*159G>A NM_000060.2 rs530872564
CANT1 Chr17:77005745 c.-342+1G>A NM_138793.3
CAPN3 Chr15:42678352 c.380-13T>A NM_000070.2
CAPN3 Chr15:42695919 c.1746-20C>T NM_000070.2
CAPN3 Chr15:42697047 c.-188G>C NM_173089.1
CAPN3 Chr15:42702715 c.2184+21G>A NM_000070.2 rs763572829
CAPN3 Chr15:42702770 c.2185-16A>G NM_000070.2
CBS Chr21:44496326 c.-86_-85+8delAGGTAGAAGA NM_001178008.1
CD40LG ChrX:135736498 c.289-32_289-25delAAAATGAC NM_000074.2
CD40LG ChrX:135736517 c.289-15T>A NM_000074.2
CD40LG ChrX:135737600 c.347-915A>T NM_000074.2
CECR1 Chr22:17664763 c.1082-1113delA NM_017424.2
CEP290 Chr12:88462434 c.6012-12T>A NM_025114.3 rs752197734
CEP290 Chr12:88494960 c.2991+1655A>G NM_025114.3 rs281865192
CEP290 Chr12:88508350 c.1910-11T>G NM_025114.3
CEP290 Chr12:88534822 c.103-18_103-13delGCTTTT NM_025114.3
CFTR Chr7:117119654 c.-495C>T NM_000492.3 rs397507565
CFTR Chr7:117119797 NM_000492.3
CFTR Chr7:117119900 c.-249G>C NM_000492.3
CFTR Chr7:117119984 c.-165G>A NM_000492.3 rs145483167
CFTR Chr7:117120064 c.-85C>G NM_000492.3
CFTR Chr7:117120115 c.-34C>T NM_000492.3 rs756314710
CFTR Chr7:117120325 c.53+124T>C NM_000492.3
CFTR Chr7:117179040 c.870-1113_870-1110delGAAT NM_000492.3 rs397508809
CFTR Chr7:117182041 c.1117-26_1117-25delAT NM_000492.3 rs397508159
CFTR Chr7:117199500 c.1393-18G>A NM_000492.3 rs397508199
CFTR Chr7:117218381 c.1585-9412A>G NM_000492.3 rs397508229
CFTR Chr7:117227774 c.1585-19T>C NM_000492.3 rs778457306
CFTR Chr7:117227921 c.1679+34G>T NM_000492.3 rs767901668
CFTR Chr7:117229521 c.1680-886A>G NM_000492.3 rs397508266
CFTR Chr7:117229524 c.1680-883A>G NM_000492.3
CFTR Chr7:117229530 c.1680-877G>T NM_000492.3 rs397508261
CFTR Chr7:117243855 c.2908+19G>C NM_000492.3 rs370683572
CFTR Chr7:117246713 c.2909-15T>G NM_000492.3 rs397508455
CFTR Chr7:117246840 c.2988+33G>T NM_000492.3
CFTR Chr7:117251609 c.3140-26A>G NM_000492.3 rs76151804
CFTR Chr7:117251619 c.3140-16T>A NM_000492.3 rs767232138
CFTR Chr7:117251624 c.3140-11A>G NM_000492.3
CFTR Chr7:117266272 c.3469-1304C>G NM_000492.3
CFTR Chr7:117267864 c.3717+40A>G NM_000492.3 rs397508595
CFTR Chr7:117280015 c.3718-2477C>T NM_000492.3 rs75039782
CFTR Chr7:117282680 c.3873+33A>G NM_000492.3 rs397508622
CFTR Chr7:117288374 c.3874-4522A>G NM_000492.3
CFTR Chr7:117308395 c.*1233T>A NM_000492.3
CHM ChrX:85220593 c.315-1536A>G NM_000390.2
CHM ChrX:85223644 c.315-4587T>A NM_000390.2
CHM ChrX:85302626 NM_000390.2
CHM ChrX:85302634 NM_000390.2
CHM ChrX:85302634 NM_000390.2
CHM ChrX:85302644 NM_000390.2
CHRNE Chr17:4804936 c.501-16G>A NM_000080.3
CHRNE Chr17:4806452 c.-94G>A NM_000080.3
CHRNE Chr17:4806453 c.-95G>A NM_000080.3
CHRNE Chr17:4806454 c.-96C>T NM_000080.3 rs748144899
CLCN1 Chr7:143013247 c.-59C>A NM_000083.2
CLCN1 Chr7:143029494 c.1167-15_1167-14delCT NM_000083.2 rs1214185689
CLN3 Chr16:28493392 c.1056+34C>A NM_000086.2
CLN3 Chr16:28497984 c.461-13G>C NM_000086.2 rs386833721
CLN6 Chr15:68506515 c.297+113G>C NM_017882.2
CLRN1 Chr3:150660197 c.254-649T>G NM_001195794.1 rs976853535
CNGA3 Chr2:98986401 c.-37-1G>C NM_001298.2
COL4A3 Chr2:228145145 c.2224-11C>T NM_000091.4
COL4A3 Chr2:228168708 c.4028-27A>G NM_000091.4
COL4A3 Chr2:228173092 c.4462+457C>G NM_000091.4
COL4A3 Chr2:228173596 c.4463-18dupA NM_000091.4 rs769590145
COL4A4 Chr2:227875240 c.4334-23A>G NM_000092.4
COL4A5 ChrX:107813924 c.385-719G>A NM_033380.2 rs104886396
COL4A5 ChrX:107816792 c.466-12G>A NM_033380.2 rs104886414
COL4A5 ChrX:107820077 c.609+875G>T NM_033380.2
COL4A5 ChrX:107821295 c.646-12_646-11delTT NM_033380.2 rs104886436
COL4A5 ChrX:107834930 c.1423+57dupC NM_033380.2 rs104886328
COL4A5 ChrX:107838719 c.1424-20T>A NM_033380.2 rs281874668
COL4A5 ChrX:107842994 c.1948+894C>G NM_033380.2
COL4A5 ChrX:107845097 c.2042-18A>G NM_033380.2 rs104886341
COL4A5 ChrX:107849932 c.2245-40A>G NM_033380.2
COL4A5 ChrX:107849958 c.2245-14T>A NM_033380.2
COL4A5 ChrX:107852872 c.2395+2750A>G NM_033380.2
COL4A5 ChrX:107908726 c.3374-11C>A NM_033380.2 rs104886387
COL4A5 ChrX:107933678 c.4529-2300T>G NM_033380.2
COL4A5 ChrX:107935633 c.4529-345A>G NM_033380.2
COL4A5 ChrX:107938272 c.4821+121T>C NM_033380.2 rs104886423
COL4A5 ChrX:107938337 c.4822-152dupT NM_033380.2
COL4A5 ChrX:107938346 c.4822-151_4822-150insT NM_033380.2 rs397515494
COL7A1 Chr3:48602516 c.8620+26G>A NM_000094.3
COL7A1 Chr3:48604008 c.8305-12T>A NM_000094.3
COL7A1 Chr3:48605244 c.7929+11_7929+26delGATGGGGGCTGGGGGG NM_000094.3 rs773394779
COL7A1 Chr3:48605981 c.7759-18_7759-14delCATCTinsTTCA NM_000094.3
COL7A1 Chr3:48613354 c.5821-19A>G NM_000094.3
COL7A1 Chr3:48616971 c.5236-23A>G NM_000094.3
COL7A1 Chr3:48626035 c.2587+40G>A NM_000094.3
COL7A1 Chr3:48629915 c.977-15G>A NM_000094.3
COL7A1 Chr3:48632779 c.-187C>T NM_000094.3
COL7A1 Chr3:48632780 c.-188C>T NM_000094.3
CPS1 Chr2:211539387 c.4102-239A>G NM_001875.4
CTNS Chr17:3539712 c.-643_-642insT NM_004937.2
CTNS Chr17:3543481 c.-19-1G>A NM_001031681.2
CTNS Chr17:3552117 c.141-24T>C NM_001031681.2
CTNS Chr17:3563518 c.971-12G>A NM_001031681.2 rs375952052
CTSK Chr1:150778521 c.244-29A>G NM_000396.3
CYBA Chr16:88712620 c.288-15C>G NM_000101.3
CYBB ChrX:37639262 c.-69A>C NM_000397.3
CYBB ChrX:37639262 NM_000397.3
CYBB ChrX:37639264 c.-67T>C NM_000397.3
CYBB ChrX:37639266 c.-65C>T NM_000397.3
CYBB ChrX:37639267 c.-64C>T NM_000397.3
CYBB ChrX:37641327 c.46-14_46-11delTTCTinsGAA NM_000397.3
CYBB ChrX:37641330 c.46-11T>G NM_000397.3
CYBB ChrX:37642713 c.142-28_142-12delACTCTGCTCCCTTTCCC NM_000397.3
CYBB ChrX:37642731 c.142-12delCinsACCTCTTCTAG NM_000397.3
CYBB ChrX:37654041 c.483+978G>T NM_000397.3
CYBB ChrX:37656474 c.674+1080A>G NM_000397.3
CYBB ChrX:37656731 c.674+1337T>G NM_000397.3
CYBB ChrX:37657051 c.675-1157A>G NM_000397.3
CYBB ChrX:37664248 c.1152-11T>G NM_000397.3
CYP11B1 Chr8:143958423 c.595+16G>T NM_000497.3
CYP1B1 Chr2:38303243 c.-322A>C NM_000104.3
CYP1B1 Chr2:38303258 c.-337G>T NM_000104.3 rs552932800
CYP21A2 Chr6:32006858 c.293-13C>G NM_000500.7 rs6467
DBT Chr1:100672742 c.1018-550A>G NM_001918.3 rs796052135
DHDDS Chr1:26774026 c.441-24A>G NM_024887.3 rs764831063
DKC1 ChrX:153991099 c.-142C>G NM_001363.3 rs199422241
DKC1 ChrX:153991100 c.-141C>G NM_001363.3
DKC1 ChrX:153993704 c.85-15T>C NM_001363.3
DMD ChrX:31165653 c.10554-18C>G NM_004006.2
DMD ChrX:31200680 c.9974+175T>A NM_004006.2
DMD ChrX:31224814 c.9564-30A>T NM_004006.2
DMD ChrX:31225211 c.9564-427T>G NM_004006.2
DMD ChrX:31226400 c.9563+1215A>G NM_004006.2
DMD ChrX:31229031 c.9362-1215A>G NM_004006.2
DMD ChrX:31241047 c.9361+117A>G NM_004006.2
DMD ChrX:31279293 c.9225-160A>G NM_004006.2
DMD ChrX:31279418 c.9225-285A>G NM_004006.2
DMD ChrX:31279420 c.9225-287C>A NM_004006.2
DMD ChrX:31279780 c.9225-647A>G NM_004006.2 rs398124091
DMD ChrX:31279781 c.9225-648A>G NM_004006.2 rs398124084
DMD ChrX:31332523 c.9224+9192C>A NM_004006.2
DMD ChrX:31382270 c.9085-15519G>T NM_004006.2
DMD ChrX:31613687 c.8217+32103G>T NM_004006.2
DMD ChrX:31627738 c.8217+18052A>G NM_004006.2
DMD ChrX:31697714 c.7661-11T>C NM_004006.2
DMD ChrX:31897527 c.6913-4037T>G NM_004006.2
DMD ChrX:31983146 c.6614+3310G>T NM_004006.2 rs797045526
DMD ChrX:32274692 c.6290+30954C>T NM_004006.2
DMD ChrX:32305833 c.6118-15A>G NM_004006.2
DMD ChrX:32360414 c.5740-15G>T NM_004006.2
DMD ChrX:32366860 c.5326-215T>G NM_004006.2
DMD ChrX:32379144 c.5325+1743_5325+1760delTATTAAAAAATGGGTAGA NM_004006.2
DMD ChrX:32398808 c.4675-11A>G NM_004006.2
DMD ChrX:32460274 c.3787-843C>A NM_004006.2
DMD ChrX:32470726 c.3603+2053G>C NM_004006.2
DMD ChrX:32479316 c.3432+2240A>G NM_004006.2
DMD ChrX:32479520 c.3432+2036A>G NM_004006.2
DMD ChrX:32669100 c.961-5831C>T NM_004006.2 rs398124099
DMD ChrX:32669194 c.961-5925A>C NM_004006.2
DMD ChrX:32716130 c.832-15A>G NM_004006.2 rs72470513
DMD ChrX:32756908 c.650-39498A>G NM_004006.2
DMD ChrX:32827744 c.531-16T>A NM_004006.2
DMD ChrX:32827744 c.531-16T>G NM_004006.2
DMD ChrX:32827744 c.531-16T>A/G NM_004006.2
DMD ChrX:32841967 c.265-463A>G NM_004006.2
DMD ChrX:33032666 c.93+5590T>A NM_004006.2
DMD ChrX:33192452 c.31+36947G>A NM_004006.2
DMD ChrX:33229483 c.-54T>A NM_004006.2
DYNC2H1 Chr11:103019205 c.2819-14A>G NM_001080463.1 rs781091611
DYNC2H1 Chr11:103055609 c.6478-16G>A NM_001080463.1 rs376892534
DYSF Chr2:71817308 c.3443-33A>G NM_003494.3 rs786205083
DYSF Chr2:71840553 c.4410+13T>G NM_003494.3
DYSF Chr2:71889030 c.4886+1249G>T NM_003494.3
DYSF Chr2:71900503 c.5668-824C>T NM_003494.3
DYSF Chr2:71913729 c.*107T>A NM_003494.3 rs11903223
EDA ChrX:69249341 c.707-13T>C/G NM_001399.4
EDA ChrX:69249341 c.707-13T>C NM_001399.4
EDA ChrX:69249341 c.707-13T>G NM_001399.4
EIF2B5 Chr3:183855941 c.685-13C>G NM_003907.2
EMD ChrX:153608559 c.266-27_266-10delTCTGCTACCGCTGCCCCC NM_000117.2
ERCC6 Chr10:50681659 c.2599-26A>G NM_000124.3 rs4253196
ERCC8 Chr5:60223572 c.173+1119G>C NM_000082.3
ERCC8 Chr5:60223645 c.173+1046A>G NM_000082.3
ESCO2 Chr8:27650167 c.1354-18G>A NM_001017420.2 rs80359865
ETFDH Chr4:159593534 c.-75A>G NM_004453.2
ETFDH Chr4:159602711 c.176-636C>G NM_004453.2
ETHE1 Chr19:44031407 NM_014297.3
EVC Chr4:5749725 c.940-150T>G NM_153717.2
EXOSC3 Chr9:37782146 c.475-12A>G NM_016042.3 rs370087266
EYS Chr6:66417023 c.-448+5G>A NM_001142800.1
F11 Chr4:187186995 c.-456G>A NM_000128.3
F11 Chr4:187197061 c.595+11A>G NM_000128.3 rs534170853
F11 Chr4:187205426 c.1304+12G>A NM_000128.3 rs116667976
F9 ChrX:138612869 c.-55G>A/C/T NM_000133.3
F9 ChrX:138612869 NM_000133.3
F9 ChrX:138612869 NM_000133.3
F9 ChrX:138612869 NM_000133.3
F9 ChrX:138612871 c.-53A>G NM_000133.3
F9 ChrX:138612871 NM_000133.3
F9 ChrX:138612872 c.-52C>G/T NM_000133.3
F9 ChrX:138612872 NM_000133.3
F9 ChrX:138612872 NM_000133.3
F9 ChrX:138612874 c.-50T>C/G NM_000133.3
F9 ChrX:138612874 NM_000133.3
F9 ChrX:138612874 NM_000133.3
F9 ChrX:138612875 c.-49T>A/C NM_000133.3
F9 ChrX:138612875 NM_000133.3
F9 ChrX:138612875 NM_000133.3 rs1178811105
F9 ChrX:138612876 c.-48G>C NM_000133.3
F9 ChrX:138612886 c.-38A>G NM_000133.3
F9 ChrX:138612889 c.-35G>A/C NM_000133.3
F9 ChrX:138612889 NM_000133.3 rs1166164399
F9 ChrX:138612889 NM_000133.3
F9 ChrX:138612890 c.-34A>G/T NM_000133.3
F9 ChrX:138612890 NM_000133.3
F9 ChrX:138612890 NM_000133.3
F9 ChrX:138612899 c.-22delT NM_000133.3
F9 ChrX:138612900 c.-24T>A NM_000133.3
F9 ChrX:138612901 c.-23T>C NM_000133.3
F9 ChrX:138612902 c.-22T>C NM_000133.3
F9 ChrX:138612903 c.-21C>G NM_000133.3
F9 ChrX:138612905 c.-19C>G NM_000133.3
F9 ChrX:138612905 c.-17delA NM_000133.3
F9 ChrX:138612906 c.-18A>G/T NM_000133.3
F9 ChrX:138612906 c.-18A>T NM_000133.3
F9 ChrX:138612906 c.-18A>G NM_000133.3
F9 ChrX:138612907 c.-17A>C/G NM_000133.3
F9 ChrX:138612907 c.-17A>C NM_000133.3
F9 ChrX:138612907 c.-17A>G NM_000133.3
F9 ChrX:138619496 c.253-25A>G/T NM_000133.3
F9 ChrX:138619496 c.253-25A>T NM_000133.3
F9 ChrX:138619496 c.253-25A>G NM_000133.3 rs1201753038
F9 ChrX:138619501 c.253-19_253-16delCTTC NM_000133.3
F9 ChrX:138619502 c.253-16_253-12delCTTTT NM_000133.3
F9 ChrX:138623222 c.278-13A>G NM_000133.3
F9 ChrX:138623223 c.278-12C>G/T NM_000133.3
F9 ChrX:138623223 c.278-12C>G NM_000133.3
F9 ChrX:138623223 c.278-12C>T NM_000133.3 rs1475223858
F9 ChrX:138630499 c.392-22_392-21delCT NM_000133.3
F9 ChrX:138630663 c.520+13A>G NM_000133.3
F9 ChrX:138633441 c.723+18T>A NM_000133.3
F9 ChrX:138645387 c.*1157A>G NM_000133.3
F9 ChrX:138645598 c.*1368A>G NM_000133.3
FANCA Chr16:89805127 c.4261-19_4261-12delACCTGCTC NM_000135.3
FANCA Chr16:89816056 c.3239+82T>G NM_000135.2
FANCA Chr16:89818822 c.2982-192A>G NM_000135.2
FANCA Chr16:89831215 c.2778+83C>G NM_000135.2 rs750997715
FANCA Chr16:89836111 c.2504+134A>G NM_000135.2
FANCA Chr16:89836805 c.2223-138A>G NM_000135.2
FANCA Chr16:89849346 c.1567-20A>G NM_000135.2 rs775154397
FANCA Chr16:89864654 c.893+920C>A NM_000135.2
FANCC Chr9:98011653 c.-78-2A>G NM_000136.2 rs587779898
FANCC Chr9:98079807 c.-79+1G>A NM_000136.2
FANCI Chr15:89825208 c.1583+142C>T NM_001113378.1
FANCL Chr2:58433394 c.375-2033C>G NM_001114636.1
FKRP Chr19:47249328 c.-272G>A NM_024301.4
FKTN Chr9:108368857 c.648-1243G>T NM_006731.2
FMR1 ChrX:147031110 c.*746T>C NM_002024.5 rs183130936
G6PC Chr17:41059684 c.446+39G>A NM_000151.3
G6PC Chr17:41059687 c.446+42G>A NM_000151.3
GAA Chr17:78078341 c.-32-13T>G NM_000152.3 rs386834236
GAA Chr17:78078341 c.-32-13T>A NM_000152.3
GAA Chr17:78078351 c.-32-3C>A/G NM_000152.3
GAA Chr17:78078352 c.-32-2A>G NM_000152.3
GAA Chr17:78078353 c.-32-1G>C NM_000152.3
GAA Chr17:78078369 c.-17C>T NM_000152.3
GAA Chr17:78082266 c.1076-22T>G NM_000152.3 rs762260678
GAA Chr17:78090422 c.2190-345A>G NM_000152.3
GAA Chr17:78092432 c.2647-20T>G NM_000152.3
GALC Chr14:88401064 c.*12G>A NM_000153.3 rs372641636
GALC Chr14:88459574 c.-66G>C NM_000153.3 rs146439771
GALC Chr14:88459575 c.-67T>G NM_000153.3 rs571945132
GALC Chr14:88459917 c.-74T>A NM_001201402.1
GALC Chr14:88459971 c.-128C>T NM_001201402.1 rs181956126
GALK1 Chr17:73761239 c.-22T>C NM_000154.1 rs545362817
GALNS Chr16:88898676 c.899-167A>G NM_000512.4
GALNS Chr16:88908390 c.245-11C>G NM_000512.4
GALT Chr9:34646606 c.-96T>G NM_000155.3
GALT Chr9:34647075 c.83-11T>G NM_000155.3
GALT Chr9:34648082 c.508-29delT NM_000155.3 rs111033711
GALT Chr9:34648519 c.687+66T>A NM_000155.3
GALT Chr9:34648904 c.820+13A>G NM_000155.3 rs111033768
GALT Chr9:34649617 c.1059+56C>T NM_000155.3 rs111033821
GAMT Chr19:1399508 c.391+15G>T NM_138924.2 rs367567416
GBA Chr1:155205646 c.1225-14_1225-11delTGTCinsAGT NM_000157.3
GBA Chr1:155208109 c.589-12C>G NM_000157.3
GBA Chr1:155211053 c.-150A>G NM_000157.3 rs1232943445
GBE1 Chr3:81542964 c.2053-3358_2053-3350delGTGTGGTGGinsTGTTTTTTACATGACAGGT NM_000158.3 rs869320698
GCDH Chr19:13010271 c.1244-11A>G NM_000159.3
GCH1 Chr14:55369403 c.-22C>T NM_000161.2
GJB1 ChrX:70442966 c.-16-576_-16-575insT NM_001097642.2
GJB1 ChrX:70443018 c.-16-524C>G NM_001097642.2
GJB1 ChrX:70443029 c.-16-513T>C/G NM_001097642.2
GJB1 ChrX:70443029 c.-16-513T>C NM_001097642.2 rs1003232768
GJB1 ChrX:70443029 c.-16-513T>G NM_001097642.2
GJB1 ChrX:70443031 c.-16-511G>C NM_001097642.2
GJB1 ChrX:70443099 c.-103C>T NM_000166.5 rs863224971
GJB1 ChrX:70443185 c.-17G>A NM_000166.5
GJB1 ChrX:70443186 c.-17+1G>T NM_000166.5
GJB1 ChrX:70443187 c.-17+2T>C NM_000166.5
GJB1 ChrX:70443539 c.-16-3C>G NM_001097642.2
GJB1 ChrX:70443540 c.-16-2A>G NM_001097642.2
GJB1 ChrX:70443541 c.-16-1G>A NM_001097642.2
GJB1 ChrX:70444424 c.*15C>T NM_001097642.2
GJB2 Chr13:20763744 c.-22-2A>C NM_004004.5 rs201895089
GJB2 Chr13:20766920 c.-23+2T>A NM_004004.5
GJB2 Chr13:20766921 c.-23+1G>A NM_004004.5 rs80338940
GJB2 Chr13:20766922 c.-23G>T NM_004004.5 rs786204734
GJB2 Chr13:20767158 c.-259C>T NM_004004.5
GJB2 Chr13:20767159 c.-260C>T NM_004004.5
GLA ChrX:100653945 c.640-11T>A NM_000169.2
GLA ChrX:100654735 c.640-801G>A NM_000169.2 rs199473684
GLA ChrX:100654793 c.640-859C>T NM_000169.2 rs869312374
GLA ChrX:100656225 c.547+395G>C NM_000169.2
GNPTAB Chr12:102159106 c.1613-25delA NM_024312.4 rs777271928
GNPTG Chr16:1412562 c.610-16_609+28del NM_032520.4 rs193302853
HADH Chr4:108945190 c.636+471G>T NM_001184705.2 rs786200932
HADH Chr4:108948955 c.709+39C>G NM_001184705.2
HADHB Chr2:26500642 c.442+614A>G NM_000183.2
HADHB Chr2:26500691 c.442+663A>G NM_000183.2
HAMP Chr19:35773328 c.-153C>T NM_021175.2 rs142126068
HAMP Chr19:35773453 c.-28G>T NM_021175.2
HAMP Chr19:35773456 c.-25G>A NM_021175.2
HBA1 Chr16:227471 c.*63_*65delCCT NM_000558.3
HBA2 Chr16:223646 c.*47G>C NM_000517.4 rs4021971
HBA2 Chr16:223672 c.*74_*89delCCTTCCTGGTCTTTGA NM_000517.4 rs63750919
HBA2 Chr16:223690 c.*93_*94delAA NM_000517.4 rs63751268
HBA2 Chr16:223691 c.*92A>G NM_000517.4 rs63750067
HBA2 Chr16:223693 c.*94A>G NM_000517.4
HBA2 Chr16:223693 c.*94A>C NM_000517.4
HBA2 Chr16:223703 c.*104G>T NM_000517.4
HBB Chr11:5246696 c.*132C>A/T NM_000518.4
HBB Chr11:5246696 c.*132C>A NM_000518.4 rs1420779550
HBB Chr11:5246696 c.*132C>T NM_000518.4
HBB Chr11:5246699 c.*129T>C NM_000518.4
HBB Chr11:5246711 c.*115_*116delAA NM_000518.4 rs281864532
HBB Chr11:5246713 c.*110_*114delTAAAA NM_000518.4 rs606231219,rs35949130
HBB Chr11:5246715 c.*113A>G NM_000518.4 rs33985472
HBB Chr11:5246716 c.*112A>G/T NM_000518.4 rs63750954
HBB Chr11:5246716 c.*112A>T NM_000518.4
HBB Chr11:5246716 c.*112A>G NM_000518.4
HBB Chr11:5246716 c.*110_*111delTA NM_000518.4 rs63750205,rs281864905
HBB Chr11:5246717 c.*111A>G NM_000518.4 rs63751128
HBB Chr11:5246718 c.*110T>A/C NM_000518.4 rs33978907
HBB Chr11:5246718 c.*110T>G NM_000518.4
HBB Chr11:5246720 c.*108A>C/G NM_000518.4
HBB Chr11:5246720 c.*108A>C NM_000518.4
HBB Chr11:5246720 c.*108A>G NM_000518.4
HBB Chr11:5246722 c.*93_*105delATCTGGATTCTGC NM_000518.4 rs34171453
HBB Chr11:5246732 c.*96T>C NM_000518.4 rs34029390
HBB Chr11:5246754 c.*74A>G NM_000518.4 rs369101035
HBB Chr11:5246781 c.*47C>G NM_000518.4
HBB Chr11:5246796 c.*32A>C NM_000518.4
HBB Chr11:5246970 c.316-14T>G NM_000518.4 rs35703285
HBB Chr11:5247046 c.316-90A>G NM_000518.4 rs63750433
HBB Chr11:5247062 c.316-106C>G NM_000518.4 rs34690599
HBB Chr11:5247102 c.316-146T>G NM_000518.4 rs35328027
HBB Chr11:5247153 c.316-197C>T NM_000518.4 rs34451549
HBB Chr11:5247216 c.316-260T>C NM_000518.4
HBB Chr11:5247602 c.315+203_315+205delTCTinsCC NM_000518.4
HBB Chr11:5248044 c.93-15T>G NM_000518.4 rs35456885
HBB Chr11:5248050 c.93-21G>A NM_000518.4 rs35004220
HBB Chr11:5248050 c.93-22delT NM_000518.4
HBB Chr11:5248263 c.-12C>T NM_000518.4 rs113115948
HBB Chr11:5248269 c.-18C>G NM_000518.4 rs34135787
HBB Chr11:5248272 c.-21T>A NM_000518.4
HBB Chr11:5248280 c.-29G>A/T NM_000518.4 rs34704828
HBB Chr11:5248281 c.-31delC NM_000518.4
HBB Chr11:5248282 c.-31C>T NM_000518.4 rs63750628
HBB Chr11:5248291 c.-41delT NM_000518.4 rs35352549
HBB Chr11:5248294 c.-43C>T NM_000518.4
HBB Chr11:5248301 c.-50A>C NM_000518.4 rs34305195
HBB Chr11:5248301 c.-50A>G/T NM_000518.4
HBB Chr11:5248326 c.-75G>T NM_000518.4
HBB Chr11:5248326 c.-75G>C NM_000518.4 rs63750400
HBB Chr11:5248326 NM_000518.4 rs63750953
HBB Chr11:5248327 c.-76A>C NM_000518.4 rs281864525
HBB Chr11:5248328 c.-77A>G/T NM_000518.4
HBB Chr11:5248328 NM_000518.4
HBB Chr11:5248328 NM_000518.4
HBB Chr11:5248329 NM_000518.4
HBB Chr11:5248329 NM_000518.4
HBB Chr11:5248329 c.-78A>C/G NM_000518.4 rs33931746
HBB Chr11:5248330 c.-79A>G NM_000518.4 rs34598529
HBB Chr11:5248330 NM_000518.4 rs397509430
HBB Chr11:5248331 NM_000518.4
HBB Chr11:5248331 NM_000518.4
HBB Chr11:5248331 c.-80T>A/C NM_000518.4 rs33980857
HBB Chr11:5248332 c.-81A>C/G NM_000518.4 rs33981098
HBB Chr11:5248332 NM_000518.4
HBB Chr11:5248332 NM_000518.4
HBB Chr11:5248333 NM_000518.4
HBB Chr11:5248333 NM_000518.4
HBB Chr11:5248333 c.-82C>A/T NM_000518.4 rs34500389
HBB Chr11:5248342 c.-91A>C NM_000518.4
HBB Chr11:5248343 c.-92C>G NM_000518.4 rs397515291
HBB Chr11:5248351 c.-100G>A NM_000518.4 rs281864524
HBB Chr11:5248372 c.-121C>T NM_000518.4 rs281864518
HBB Chr11:5248373 NM_000518.4 rs1272414751
HBB Chr11:5248374 c.-123A>T NM_000518.4
HBB Chr11:5248377 c.-126C>A NM_000518.4
HBB Chr11:5248378 c.-127G>C NM_000518.4
HBB Chr11:5248384 NM_000518.4 rs72561473
HBB Chr11:5248387 NM_000518.4
HBB Chr11:5248387 NM_000518.4
HBB Chr11:5248387 NM_000518.4
HBB Chr11:5248387 c.-136C>A/G/T NM_000518.4 rs33994806
HBB Chr11:5248388 c.-137C>A/G/T NM_000518.4 rs33941377
HBB Chr11:5248388 NM_000518.4
HBB Chr11:5248388 NM_000518.4
HBB Chr11:5248388 NM_000518.4
HBB Chr11:5248389 NM_000518.4
HBB Chr11:5248389 NM_000518.4
HBB Chr11:5248389 c.-138C>A/T NM_000518.4 rs33944208
HBB Chr11:5248391 NM_000518.4 rs34999973
HBB Chr11:5248393 c.-142C>T NM_000518.4 rs34883338
HBB Chr11:5248394 c.-143C>G NM_000518.4 rs63751043
HBB Chr11:5248402 c.-151C>T NM_000518.4 rs63751208
HBB Chr11:5248402 NM_000518.4
HBB Chr11:5248403 c.-152C>A NM_000518.4
HBB Chr11:5248491 c.-240G>A NM_000518.4 rs753344875
HBB Chr11:5248524 c.-273T>C NM_000518.4 rs139703273
HEXA Chr15:72640009 c.1146+18A>G NM_000520.4
HEXB Chr5:74014605 c.1243-17A>G NM_000521.3
HEXB Chr5:74016442 c.1509-26G>A NM_000521.3 rs201580118
HEXB Chr5:74016585 c.1613+15_1613+18dupAAGT NM_000521.3 rs779273534
HEXB Chr5:74016926 c.1614-16_1615dupTTCATGTTATCTACAGAC NM_000521.3 rs756912360
HEXB Chr5:74016929 c.1614-14C>A NM_000521.3 rs201448394
HFE2 Chr1:145414683 c.-89-4dupT NM_213653.3
HGD Chr3:120363307 c.650-17G>A NM_000187.3 rs1309894047
HGD Chr3:120363346 c.650-56G>A NM_000187.3 rs1377948705
HGSNAT Chr8:43028824 c.821-28_821-10delTTGCTTATGCTTTGTACTT NM_152419.2
HPRT1 ChrX:133594415 c.27+47C>T NM_000194.2
HPRT1 ChrX:133625464 c.402+1229A>G NM_000194.2
HPRT1 ChrX:133628822 c.485+1202T>A NM_000194.2
HPRT1 ChrX:133632625 c.533-13T>G NM_000194.2
HPS3 Chr3:148888270 c.2888-1612G>A NM_032383.3 rs281865096
HSD17B4 Chr5:118837725 c.1285-11C>G NM_001199291.1 rs779466683
IDS ChrX:148564764 c.1181-15C>A NM_000202.5
IDS ChrX:148568762 c.*57A>G NM_006123.4
IDS ChrX:148578704 c.709-657G>A NM_000202.5
IL2RG ChrX:70327277 c.*307_*308delAA NM_000206.2
IL2RG ChrX:70327278 c.*308A>G NM_000206.2
IL2RG ChrX:70330553 c.270-15A>G NM_000206.2
IL2RG ChrX:70331494 c.-105C>T NM_000206.2
IL7R Chr5:35867853 c.379+288G>A NM_002185.3
JAK3 Chr19:17943239 c.2680+89G>A NM_000215.3
JAK3 Chr19:17946035 c.1915-11G>A NM_000215.3
L1CAM ChrX:153128846 c.3531-12G>A NM_000425.4
L1CAM ChrX:153131293 c.2432-19A>C NM_000425.4
L1CAM ChrX:153133652 c.1704-75G>T NM_000425.4
L1CAM ChrX:153133926 c.1547-14delC NM_000425.4
L1CAM ChrX:153136500 c.523+12C>T NM_000425.4
LAMA2 Chr6:129633984 c.3175-22G>A NM_000426.3 rs777129293
LAMA2 Chr6:129636608 c.3556-13T>A NM_000426.3 rs775278003
LAMA2 Chr6:129714172 c.5235-18G>A NM_000426.3 rs188365084
LAMA2 Chr6:129835506 c.8989-12C>G NM_000426.3 rs144860334
LAMA3 Chr18:21441788 c.4584+22_4584+24delTCT NM_198129.1 rs1421336257
LAMB3 Chr1:209801557 c.1133-22G>A NM_000228.2 rs767847211
LAMB3 Chr1:209825713 c.-38+1G>A NM_000228.2
LDLR Chr19:11199939 NM_000527.4
LDLR Chr19:11199958 c.-267A>G NM_000527.4
LDLR Chr19:11199997 c.-228G>C NM_000527.4 rs376713337
LDLR Chr19:11200000 NM_000527.4
LDLR Chr19:11200019 c.-206C>T NM_000527.4 rs549995837
LDLR Chr19:11200031 NM_000527.4 rs1270618112
LDLR Chr19:11200032 NM_000527.4 rs879254362
LDLR Chr19:11200032 NM_000527.4
LDLR Chr19:11200034 c.-191C>A NM_000527.4
LDLR Chr19:11200037 c.-188C>T NM_000527.4
LDLR Chr19:11200038 c.-185_-183delCTT NM_000527.4
LDLR Chr19:11200053 c.-172G>A NM_000527.4
LDLR Chr19:11200057 c.-168A>G NM_000527.4
LDLR Chr19:11200062 c.-163T>C NM_000527.4
LDLR Chr19:11200064 c.-161A>C NM_000527.4
LDLR Chr19:11200069 c.-156C>T NM_000527.4
LDLR Chr19:11200069 c.-155_-154delACinsTTCTGCAAACTCCT NM_000527.4
LDLR Chr19:11200069 c.-155_-150delACCCCA NM_000527.4
LDLR Chr19:11200070 c.-155_-154delACinsTTCTGCAAACTCCT NM_000527.4 rs879254365
LDLR Chr19:11200070 c.-155_-150delACCCCAinsTT NM_000527.4
LDLR Chr19:11200071 c.-154C>T NM_000527.4
LDLR Chr19:11200072 c.-153C>T NM_000527.4
LDLR Chr19:11200073 c.-152C>T NM_000527.4
LDLR Chr19:11200074 c.-151C>G NM_000527.4
LDLR Chr19:11200075 c.-150A>G NM_000527.4
LDLR Chr19:11200076 c.-149C>A NM_000527.4
LDLR Chr19:11200079 c.-146C>A NM_000527.4
LDLR Chr19:11200083 c.-142C>G/T NM_000527.4
LDLR Chr19:11200084 c.-139_-130delCTCCCCCTGC NM_000527.4
LDLR Chr19:11200085 c.-140C>A/G/T NM_000527.4 rs875989887
LDLR Chr19:11200086 c.-138delT NM_000527.4 rs387906307
LDLR Chr19:11200086 c.-139C>A/G NM_000527.4
LDLR Chr19:11200087 c.-138T>C NM_000527.4
LDLR Chr19:11200088 c.-137C>T NM_000527.4
LDLR Chr19:11200089 c.-136C>G/T NM_000527.4
LDLR Chr19:11200089 c.-136C>G NM_000527.4 rs879254374
LDLR Chr19:11200089 c.-136C>T NM_000527.4
LDLR Chr19:11200090 c.-135C>G NM_000527.4
LDLR Chr19:11200091 c.-134C>T NM_000527.4
LDLR Chr19:11200098 c.-124dupA NM_000527.4
LDLR Chr19:11200105 c.-120C>T NM_000527.4 rs875989886
LDLR Chr19:11200124 c.-101T>C NM_000527.4 rs747068848
LDLR Chr19:11200126 c.-99A>G NM_000527.4
LDLR Chr19:11200127 c.-98C>T NM_000527.4
LDLR Chr19:11200202 c.-22delC NM_000527.4 rs879254379
LDLR Chr19:11200202 c.-23A>C NM_000527.4 rs763282380
LDLR Chr19:11200211 c.-14C>A NM_000527.4
LDLR Chr19:11218203 c.940+14delC NM_000527.4 rs879254730
LDLR Chr19:11221315 c.941-13T>A NM_000527.4
LDLR Chr19:11224179 c.1359-31_1359-23delGCGCTGATGinsCGGCT NM_000527.4
LDLR Chr19:11224186 c.1359-25A>G NM_000527.4
LDLR Chr19:11227685 c.1845+11C>G NM_000527.4
LDLR Chr19:11227689 c.1845+15C>A NM_000527.4
LDLR Chr19:11231284 c.2140+86C>G NM_000527.4
LDLR Chr19:11231301 c.2140+103G>T NM_000527.4
LDLR Chr19:11242035 c.*43G>A NM_000527.4 rs879254527
MCCC2 Chr5:70898313 c.384-20A>G NM_022132.4 rs770917710
MCCC2 Chr5:70939634 c.1073-12C>G NM_022132.4 rs1280511914
MEFV Chr16:3306599 c.-12C>G NM_000243.2 rs104895148
MEFV Chr16:3306969 c.-382C>G NM_000243.2
MLC1 Chr22:50502853 c.895-226T>G NM_015166.3
MLC1 Chr22:50523373 c.-42C>T NM_015166.3 rs771159578
MTHFR Chr1:11850973 c.1753-18G>A NM_005957.4 rs777661576
MTHFR Chr1:11863212 c.-13-28_-13-27delCT NM_005957.4 rs786204005
MTM1 ChrX:149767035 c.137-19_137-16delACTT NM_000252.2
MTM1 ChrX:149767045 c.137-11T>A NM_000252.2
MTM1 ChrX:149783032 c.232-26_232-23delGACT NM_000252.2
MTM1 ChrX:149808833 c.529-909A>G NM_000252.2
MTM1 ChrX:149818176 c.868-13T>A NM_000252.2
MTTP Chr4:100512792 c.619-5_619-2delTTTA NM_000253.2 rs755155385
MTTP Chr4:100522736 c.1237-28A>G NM_000253.2
MUT Chr6:49427219 c.-39-1G>A NM_000255.3
MVK Chr12:110029032 c.769-7dupT NM_000431.2 rs104895348
MYO7A Chr11:76839534 c.-48A>G NM_000260.3
MYO7A Chr11:76893448 c.3109-21G>A NM_000260.3
MYO7A Chr11:76915107 c.5327-14T>G NM_000260.3
MYO7A Chr11:76915110 c.5327-11A>G NM_000260.3 rs397516316
MYO7A Chr11:76919448 c.5857-27_5857-26insTTGAG NM_000260.3
NAGS Chr17:42078968 c.-3063C>A NM_153006.2
NDUFAF5 Chr20:13767051 c.223-907A>C NM_024120.4
NDUFAF6 Chr8:96046914 c.298-768T>C NM_152416.3 rs575462405
NDUFAF6 Chr8:96048588 c.420+784C>T NM_152416.3 rs749738738
NEB Chr2:152355017 c.24220-151C>A NM_001271208.1
NEB Chr2:152410918 c.19429-381_19429-379delTTTinsA NM_001271208.1
NPC1 Chr18:21132700 c.1554-1009G>A NM_000271.4
NPC1 Chr18:21137182 c.882-28A>G/T NM_000271.4
NPC1 Chr18:21137182 c.882-28A>G NM_000271.4
NPC1 Chr18:21137182 c.882-28A>T NM_000271.4
NPHS1 Chr19:36335378 c.1931-17C>A NM_004646.3
NPHS1 Chr19:36336259 c.1930+11C>A NM_004646.3
NPHS1 Chr19:36343206 c.-475_-468delGAGAGAGA NM_004646.3 rs386833860
NPHS2 Chr1:179545163 c.-164C>T NM_014625.2 rs553068590
NTRK1 Chr1:156838278 c.575-19G>A NM_002529.3 rs370828525
NTRK1 Chr1:156843392 c.851-33T>A NM_002529.3 rs80356674
NTRK1 Chr1:156851237 c.2206-12C>A NM_002529.3
NTRK1 Chr1:156851238 c.2206-11G>A NM_002529.3
OCA2 Chr15:28234823 c.1117-11T>A NM_000275.2
OCA2 Chr15:28234829 c.1117-17T>C NM_000275.2 rs200081580
OCA2 Chr15:28235808 c.1045-15T>G NM_000275.2 rs779461179
OCA2 Chr15:28267738 c.574-19A>G NM_000275.2 rs145242923
OTC ChrX:38202566 c.-9384G>T NM_000531.5
OTC ChrX:38211584 NM_000531.5 rs191615506
OTC ChrX:38211793 c.-157T>G NM_000531.5
OTC ChrX:38211808 c.-142G>A NM_000531.5
OTC ChrX:38211811 c.-139A>G NM_000531.5
OTC ChrX:38211834 c.-116C>T NM_000531.5
OTC ChrX:38211835 c.-115C>T NM_000531.5
OTC ChrX:38211844 c.-106C>A NM_000531.5 rs749748052
OTC ChrX:38260946 c.540+265G>A NM_000531.5
OTC ChrX:38269404 c.867+1126A>G NM_000531.5
OTC ChrX:38272343 c.1005+1091C>G NM_000531.5
PAH Chr12:103232809 c.*144A>G NM_000277.1 rs375319584
PAH Chr12:103237404 c.1199+20G>C NM_000277.1 rs62509018
PAH Chr12:103237407 c.1199+17G>A NM_000277.1 rs62508613
PAH Chr12:103237568 c.1066-11G>A NM_000277.1 rs5030855
PAH Chr12:103237568 c.1066-12delT NM_000277.1
PAH Chr12:103237570 c.1066-13T>G NM_000277.1
PAH Chr12:103237571 c.1066-14C>G NM_000277.1 rs62507334
PAH Chr12:103238075 c.1065+39G>T NM_000277.1 rs62510582
PAH Chr12:103260355 c.509+15_509+18delCTTG NM_000277.1 rs1335303703
PAH Chr12:103288709 c.169-13T>G NM_000277.1 rs62507341
PC Chr11:66620883 c.1369-29A>G NM_000920.3
PCCA Chr13:100958030 c.1285-1416A>G NM_000282.3
PCCB Chr3:136003251 c.714+462A>G NM_001178014.1
PCDH15 Chr10:56560684 c.-29+1G>C NM_001142763.1
PDHA1 ChrX:19371182 c.533-17_533-14delTGTT NM_001173454.1
PDHA1 ChrX:19372579 c.625-30G>A NM_001173454.1
PDHA1 ChrX:19373648 c.873+26G>A NM_001173454.1
PDHA1 ChrX:19377849 c.*79_*90dupAGTCAATGAAAT NM_001173454.1 rs606231192
PDHA1 ChrX:19377861 c.*79_*90dupAGTCAATGAAAT NM_001173454.1
PEX6 Chr6:42933858 c.2301-15C>G NM_000287.3 rs267608236
PEX6 Chr6:42933952 c.2300+28G>A NM_000287.3 rs267608237
PEX7 Chr6:137143759 c.-45C>T NM_000288.3 rs267608252
PFKM Chr12:48535459 c.1626-64A>G NM_001166686.1
PKHD1 Chr6:51618610 c.8798-459C>A NM_138694.3
PKHD1 Chr6:51747238 c.7350+653A>G NM_138694.3
PLP1 ChrX:103031997 c.4+78_4+85delGGGGGTTC NM_000533.3
PLP1 ChrX:103041680 c.453+28_453+46delTAACAAGGGGTGGGGGAAA NM_000533.3
PLP1 ChrX:103042405 c.454-322G>A NM_000533.3
PLP1 ChrX:103042413 c.454-314T>A/G NM_000533.3
PLP1 ChrX:103042413 c.454-314T>A NM_000533.3
PLP1 ChrX:103042413 c.454-314T>G NM_000533.3
PMM2 Chr16:8891573 NM_000303.2
PMM2 Chr16:8898599 c.179-25A>G NM_000303.2 rs760689221
PMM2 Chr16:8926102 c.640-15479C>T NM_000303.2 rs1258107584
PMM2 Chr16:8941558 c.640-23A>G NM_000303.2
POMT1 Chr9:134379574 c.-30-2A>G NM_007171.3
POMT2 Chr14:77751989 c.1333-14G>A NM_013382.5
POR Chr7:75544501 c.-5+4A>G NM_000941.2
PPT1 Chr1:40539203 c.*526_*529delATCA NM_000310.3 rs386833624
PPT1 Chr1:40558194 c.125-15T>G NM_000310.3 rs386833629
PROP1 Chr5:177420059 c.343-11C>G NM_006261.4
PSAP Chr10:73583679 c.778-26C>A NM_001042465.1
PTS Chr11:112098994 c.84-323A>T NM_000317.2 rs794726657
PTS Chr11:112099026 c.84-291A>G NM_000317.2
PTS Chr11:112100215 c.164-716A>T NM_000317.2
PTS Chr11:112101310 c.187-38dupG NM_000317.2
PYGM Chr11:64523631 c.661-601G>A NM_005609.2
PYGM Chr11:64525847 c.425-26A>G NM_005609.2 rs764313717
QDPR Chr4:17500790 c.436+2552A>G NM_000320.2
RAG2 Chr11:36619652 c.-28G>C NM_000536.3
RAPSN Chr11:47469717 c.193-15C>A NM_005055.4
RAPSN Chr11:47470715 c.-199C>G NM_005055.4
RAPSN Chr11:47470726 c.-210A>G NM_005055.4 rs786200905
RARS2 Chr6:88244587 c.613-3927C>T NM_020320.3
RMRP Chr9:35658026 NR_003051.3 rs781730798
RMRP Chr9:35658026 NR_003051.3
RMRP Chr9:35658026 NR_003051.3
RMRP Chr9:35658026 NR_003051.3
RMRP Chr9:35658027 NR_003051.3
RMRP Chr9:35658027 NR_003051.3
RMRP Chr9:35658027 NR_003051.3
RMRP Chr9:35658027 NR_003051.3 rs727502775
RMRP Chr9:35658027 NR_003051.3
RMRP Chr9:35658028 NR_003051.3
RMRP Chr9:35658028 NR_003051.3
RMRP Chr9:35658029 NR_003051.3
RMRP Chr9:35658029 NR_003051.3
RMRP Chr9:35658032 NR_003051.3
RNASEH2B Chr13:51501530 c.65-13G>A NM_024570.3
RNASEH2B Chr13:51519550 c.511-13G>A NM_024570.3
RPE65 Chr1:68910577 c.246-11A>G NM_000329.2
RPGR ChrX:38128234 NM_000328.2
RPGR ChrX:38160137 c.1059+363G>A NM_001034853.1
RPGRIP1 Chr14:21789155 c.1468-263G>C NM_020366.3
RPGRIP1 Chr14:21789588 c.1611+27G>A NM_020366.3
RPGRIP1 Chr14:21793563 c.2367+23delG NM_020366.3 rs781728563
RPGRIP1 Chr14:21793564 c.2367+23delG NM_020366.3
RPGRIP1 Chr14:21795769 c.2711-13G>T NM_020366.3 rs369991630
SGCA Chr17:48246419 c.585-31_585-23delTCTGCTGAC NM_000023.2
SGCA Chr17:48246421 c.585-31_585-24delTCTGCTGA NM_000023.2
SGCA Chr17:48247492 c.748-12_748-11delCTinsAA NM_000023.2
SGCG Chr13:23755086 c.-127_-121delACAGTTG NM_000231.2 rs1422849467
SGCG Chr13:23755215 c.-1+1G>T NM_000231.2
SGSH Chr17:78190802 c.249+27_249+28delGG NM_000199.3
SLC12A1 Chr15:48524910 c.976-14C>G NM_000338.2
SLC12A3 Chr16:56903992 c.602-16G>A NM_000339.2 rs750901478
SLC12A3 Chr16:56914462 c.1567+297T>G NM_000339.2
SLC12A3 Chr16:56917770 c.1670-191C>T NM_000339.2 rs374182921
SLC12A3 Chr16:56927219 c.2548+253C>T NM_000339.2
SLC19A3 Chr2:228560811 c.980-14A>G NM_025243.3 rs200542114
SLC22A5 Chr5:131714054 c.394-16T>A NM_003060.3 rs775097754
SLC22A5 Chr5:131722665 c.825-52G>A NM_003060.3
SLC26A2 Chr5:149340544 c.-26+2T>C NM_000112.3 rs386833492
SLC26A4 Chr7:107301201 c.-103T>C NM_000441.1 rs60284988
SLC26A4 Chr7:107301244 c.-60A>G NM_000441.1 rs545973091
SLC26A4 Chr7:107301301 c.-4+1G>C NM_000441.1
SLC26A4 Chr7:107301305 c.-4+5G>A NM_000441.1 rs727503425
SLC26A4 Chr7:107323842 c.918+45_918+47delCAA NM_000441.1
SLC26A4 Chr7:107330533 c.1150-35_1150-28delTTTGTAGG NM_000441.1
SLC26A4 Chr7:107334836 c.1264-12T>A NM_000441.1
SLC26A4 Chr7:107336364 c.1438-7dupT NM_000441.1 rs754734032
SLC26A4 Chr7:107341513 c.1708-27_1708-11delTAAGTAACTTGACATTT NM_000441.1
SLC26A4 Chr7:107350439 c.2090-52_2090-49delCAAA NM_000441.1
SLC39A4 Chr8:145641963 c.192+19G>A NM_130849.3 rs368996660
SMPD1 Chr11:6415102 c.1341-21_1341-18delAATG NM_000543.4 rs1312743513
SPINK5 Chr5:147465956 c.283-12T>A NM_006846.3
SPINK5 Chr5:147484503 c.1431-12G>A NM_006846.3 rs368134354
SPINK5 Chr5:147491511 c.1820+53G>A NM_006846.3 rs754599628
SPR Chr2:73114549 c.-13G>A NM_003124.4 rs750423023
STAR Chr8:38003676 c.466-11T>A NM_000349.2
STXBP2 Chr19:7705761 c.326-23_326-16delGCCCCACT NM_006949.3
SURF1 Chr9:136220806 c.324-11T>G NM_003172.3 rs375398247
TCIRG1 Chr11:67806587 c.-5+1G>C/T NM_006019.3
TCIRG1 Chr11:67806587 c.-5+1G>C NM_006019.3
TCIRG1 Chr11:67806587 c.-5+1G>T NM_006019.3
TCIRG1 Chr11:67816893 c.1887+132T>C NM_006019.3
TCIRG1 Chr11:67816903 c.1887+142T>A NM_006019.3
TCIRG1 Chr11:67816907 c.1887+146G>A NM_006019.3
TCIRG1 Chr11:67816910 c.1887+149C>T NM_006019.3
TGM1 Chr14:24730233 c.509-329C>T NM_000359.2
TH Chr11:2187017 c.1198-24T>A NM_199292.2
TH Chr11:2188749 c.738-34G>C NM_199292.2
TH Chr11:2193085 c.-69T>A NM_199292.2
TH Chr11:2193086 c.-70G>A NM_199292.2
TH Chr11:2193087 c.-71C>T NM_199292.2 rs549435434
TMEM231 Chr16:75575364 c.824-11T>C NM_001077416.2
TPP1 Chr11:6637752 c.887-18A>G NM_000391.3
TRIM37 Chr17:57106096 c.1949-12A>G NM_015294.3
TYR Chr11:88960973 c.1037-18T>G NM_000372.4
UBR1 Chr15:43330355 c.1911+14C>G NM_174916.2
UBR1 Chr15:43350639 c.1094-12A>G NM_174916.2
UBR1 Chr15:43350640 c.1094-13A>G NM_174916.2
UBR1 Chr15:43363136 c.529-13G>A NM_174916.2
UNC13D Chr17:73826245 c.2831-13G>A NM_199242.2
UNC13D Chr17:73827442 c.2448-13G>A NM_199242.2 rs753762300
UNC13D Chr17:73839907 c.118-307G>A NM_199242.2
UNC13D Chr17:73839908 c.118-308C>T NM_199242.2
USH2A Chr1:215821092 c.14583-20C>G NM_206933.2
USH2A Chr1:215967783 c.9959-4159A>G NM_206933.2
USH2A Chr1:216039721 c.8845+628C>T NM_206933.2
USH2A Chr1:216064540 c.7595-2144A>G NM_206933.2 rs786200928
USH2A Chr1:216247476 c.5573-834A>G NM_206933.2
USH2A Chr1:216592035 c.486-14G>A NM_206933.2 rs374536346
USH2A Chr1:216596610 c.-259G>T NM_206933.2
XPA Chr9:100449555 c.390-12A>G NM_000380.3
XPC Chr3:14187285 c.*156G>A NM_004628.4 rs121965092
XPC Chr3:14209904 c.413-24A>G NM_004628.4 rs794729657

Test Strengths

The strengths of this test include:
-CAP-accredited laboratory
-CLIA-certified personnel performing clinical testing in a CLIA-certified laboratory
-Powerful sequencing technologies, advanced target enrichment methods and precision bioinformatics pipelines ensure superior analytical performance
-Careful construction of clinically effective and scientifically justified gene panels
-Some of the panels include the whole mitochondrial genome (please see the Panel Content section)
-Our Nucleus online portal providing transparent and easy access to quality and performance data at the patient level
-~2,000 noncoding disease-causing variants in our clinical grade NGS assay for panels (please see ‘Noncoding disease-causing variants covered by this panel’ in the Panel Content section)
-Our rigorous variant classification scheme
-Our systematic clinical interpretation workflow using proprietary software enabling accurate and traceable processing of NGS data
-Our comprehensive clinical statements

The strengths of this test include:

  • CAP-accredited laboratory
  • CLIA-certified personnel performing clinical testing in a CLIA-certified laboratory
  • Powerful sequencing technologies, advanced target enrichment methods, and precision bioinformatics pipelines ensure superior analytical performance
  • Careful construction of clinically effective and scientifically justified gene panels
  • Our Nucleus online portal provides transparent and easy access to quality and performance data at the patient level
  • Our publicly available analytic validation demonstrates complete details of test performance
  • ~2,000 non-coding disease-causing variants in our clinical-grade NGS assay for panels (please see ‘Non-coding disease-causing variants covered by this test’)
  • Our rigorous variant classification scheme
  • Our systematic clinical interpretation workflow using proprietary software enables accurate and traceable processing of NGS data
  • Our comprehensive clinical statements

Test Limitations

This test does not detect the following:
-Complex inversions
-Gene conversions
-Balanced translocations
-Some of the panels include the whole mitochondrial genome but not all (please see the Panel Content section)
-Repeat expansion disorders unless specifically mentioned
-Noncoding variants deeper than ±20 base pairs from exon-intron boundary unless otherwise indicated (please see above Panel Content / non-coding variants covered by the panel).

This test may not reliably detect the following:
-Low-level mosaicism in nuclear genes (variant with a minor allele fraction of 14.6% is detected with 90% probability)
-Stretches of mononucleotide repeats
-Low-level heteroplasmy in mtDNA (>90% are detected at 5% level)
-Indels larger than 50bp
-Single exon deletions or duplications
-Variants within pseudogene regions/duplicated segments
-Some disease-causing variants present in mtDNA are not detectable from blood, thus post-mitotic tissue such as skeletal muscle may be required for establishing molecular diagnosis.
The sensitivity of this test may be reduced if DNA is extracted by a laboratory other than Blueprint Genetics.
For additional information, please refer to the Test performance section.

CFTR: The 5T and associated TG repeat variants are not reported as their relevance in relation to classical cystic fibrosis is unclear and this test is not intended to screen for risk of congenital bilateral absence of the vas deferens (CBAVD) or CFTR-related pancreatitis risk.

CYP21A2 (NM_000500.9): only the following variants are reported:

c.955C>T p.(Gln319*)

c.844G>T p.(Val282Leu)

c.293-13C>G

c.1360C>T p.(Pro454Ser)

c.518T>A p.(Ile173Asn)

c.1447C>T p.(Pro483Ser)

c.92C>T p.(Pro31Leu)

FMR1: Repeat expansion reporting includes findings consistent with intermediate CGG repeat length (45-54), premutation (55-200) and full mutation (>200 repeats) (PMID: 23765048). Indication of AGG interruptions is reported for female carriers of premutations but specific nature of the repeat (presence and number of AGG interruptions) will require confirmation using additional methods.

SMN1: Analysis includes only SMN1 copy number analysis, sequence variants are not included in this test. “Silent” carriers of SMA (individuals with two copies of SMN1 on one allele, and zero copies on the other allele) is not detected with this test. We do not include SMN1 c.*3+80T>G as this is mostly uninformative in the general population. This variant is common in African American individuals (27% carrier frequency) where it poorly predicts SMN1 2+0 allele status and it is rare in Ashkenazi Jewish individuals (3.5% carrier frequency) where it reliably predicts SMN1 2+0 allele status (PMID: 23788250).

TYR: The c.1205G>A, p.(Arg402Gln) (NM_000372.5) hypomorphic variant is typically associated with mild skin/hair/eye pigmentation changes and is therefore not reported as this test is intended to identify variants that cause severe TYR-related oculocutaneous albinism.

This test does not detect the following:

  • Complex inversions
  • Gene conversions
  • Balanced translocations
  • Some of the panels include the whole mitochondrial genome but not all (please see the Panel Content section)
  • Repeat expansion disorders unless specifically mentioned
  • Non-coding variants deeper than ±20 base pairs from exon-intron boundary unless otherwise indicated (please see above Panel Content / non-coding variants covered by the panel).

This test may not reliably detect the following:

  • Low level mosaicism in nuclear genes (variant with a minor allele fraction of 14.6% is detected with 90% probability)
  • Stretches of mononucleotide repeats
  • Low level heteroplasmy in mtDNA (>90% are detected at 5% level)
  • Indels larger than 50bp
  • Single exon deletions or duplications
  • Variants within pseudogene regions/duplicated segments
  • Some disease causing variants present in mtDNA are not detectable from blood, thus post-mitotic tissue such as skeletal muscle may be required for establishing molecular diagnosis.

The sensitivity of this test may be reduced if DNA is extracted by a laboratory other than Blueprint Genetics.

For additional information, please refer to the Test performance section.

The genes on the panel have been carefully selected based on scientific literature, mutation databases and our experience.

Our panels are sectioned from our high-quality, clinical grade NGS assay. Please see our sequencing and detection performance table for details regarding our ability to detect different types of alterations (Table).

Assays have been validated for various sample types including EDTA-blood, isolated DNA (excluding from formalin fixed paraffin embedded tissue), saliva and dry blood spots (filter cards). These sample types were selected in order to maximize the likelihood for high-quality DNA yield. The diagnostic yield varies depending on the assay used, referring healthcare professional, hospital and country. Plus analysis increases the likelihood of finding a genetic diagnosis for your patient, as large deletions and duplications cannot be detected using sequence analysis alone. Blueprint Genetics’ Plus Analysis is a combination of both sequencing and deletion/duplication (copy number variant (CNV)) analysis.

The performance metrics listed below are from an initial validation performed at our main laboratory in Finland.

Performance of Blueprint Genetics high-quality, clinical grade NGS sequencing assay for panels.

Sensitivity % (TP/(TP+FN) Specificity %
Single nucleotide variants 99.89% (99,153/99,266) >99.9999%
Insertions, deletions and indels by sequence analysis
1-10 bps 99.2% (7,745/7,806) >99.9999%
11-50 bps 99.13% (2,524/2,546) >99.9999%
Copy number variants (exon level dels/dups)
1 exon level deletion (heterozygous) 100% (20/20) NA
1 exon level deletion (homozygous) 100% (5/5) NA
1 exon level deletion (het or homo) 100% (25/25) NA
2-7 exon level deletion (het or homo) 100% (44/44) NA
1-9 exon level duplication (het or homo) 75% (6/8) NA
Simulated CNV detection
5 exons level deletion/duplication 98.7% 100.00%
Microdeletion/-duplication sdrs (large CNVs, n=37))
Size range (0.1-47 Mb) 100% (25/25)
     
The performance presented above reached by Blueprint Genetics high-quality, clinical grade NGS sequencing assay with the following coverage metrics
     
Mean sequencing depth 143X
Nucleotides with >20x sequencing coverage (%) 99.86%

Performance of Blueprint Genetics Mitochondrial Sequencing Assay.

Sensitivity % Specificity %
ANALYTIC VALIDATION (NA samples; n=4)
Single nucleotide variants
Heteroplasmic (45-100%) 100.0% (50/50) 100.0%
Heteroplasmic (35-45%) 100.0% (87/87) 100.0%
Heteroplasmic (25-35%) 100.0% (73/73) 100.0%
Heteroplasmic (15-25%) 100.0% (77/77) 100.0%
Heteroplasmic (10-15%) 100.0% (74/74) 100.0%
Heteroplasmic (5-10%) 100.0% (3/3) 100.0%
Heteroplasmic (<5%) 50.0% (2/4) 100.0%
CLINICAL VALIDATION (n=76 samples)
All types
Single nucleotide variants n=2026 SNVs
Heteroplasmic (45-100%) 100.0% (1940/1940) 100.0%
Heteroplasmic (35-45%) 100.0% (4/4) 100.0%
Heteroplasmic (25-35%) 100.0% (3/3) 100.0%
Heteroplasmic (15-25%) 100.0% (3/3) 100.0%
Heteroplasmic (10-15%) 100.0% (9/9) 100.0%
Heteroplasmic (5-10%) 92.3% (12/13) 99.98%
Heteroplasmic (<5%) 88.9% (48/54) 99.93%
Insertions and deletions by sequence analysis n=40 indels
Heteroplasmic (45-100%) 1-10bp 100.0% (32/32) 100.0%
Heteroplasmic (5-45%) 1-10bp 100.0% (3/3) 100.0%
Heteroplasmic (<5%) 1-10bp 100.0% (5/5) 99,997%
SIMULATION DATA /(mitomap mutations)
Insertions, and deletions 1-24 bps by sequence analysis; n=17
Homoplasmic (100%) 1-24bp 100.0% (17/17) 99.98%
Heteroplasmic (50%) 100.0% (17/17) 99.99%
Heteroplasmic (25%) 100.0% (17/17) 100.0%
Heteroplasmic (20%) 100.0% (17/17) 100.0%
Heteroplasmic (15%) 100.0% (17/17) 100.0%
Heteroplasmic (10%) 94.1% (16/17) 100.0%
Heteroplasmic (5%) 94.1% (16/17) 100.0%
Copy number variants (separate artifical mutations; n=1500)
Homoplasmic (100%) 500 bp, 1kb, 5 kb 100.0% 100.0%
Heteroplasmic (50%) 500 bp, 1kb, 5 kb 100.0% 100.0%
Heteroplasmic (30%) 500 bp, 1kb, 5 kb 100.0% 100.0%
Heteroplasmic (20%) 500 bp, 1kb, 5 kb 99.7% 100.0%
Heteroplasmic (10%) 500 bp, 1kb, 5 kb 99.0% 100.0%
The performance presented above reached by following coverage metrics at assay level (n=66)
Mean of medians Median of medians
Mean sequencing depth MQ0 (clinical) 18224X 17366X
Nucleotides with >1000x MQ0 sequencing coverage (%) (clinical) 100%
rho zero cell line (=no mtDNA), mean sequencing depth 12X

The target region for each gene includes coding exons and ±20 base pairs from the exon-intron boundary. In addition, the panel includes non-coding and regulatory variants if listed above (Non-coding variants covered by the panel). Some regions of the gene(s) may be removed from the panel if specifically mentioned in the ‘Test limitations” section above. The sequencing data generated in our laboratory is analyzed with our proprietary data analysis and annotation pipeline, integrating state-of-the art algorithms and industry-standard software solutions. Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. Our pipeline is streamlined to maximize sensitivity without sacrificing specificity. We have incorporated a number of reference population databases and mutation databases including, but not limited, to 1000 Genomes ProjectgnomAD, ClinVar and HGMD into our clinical interpretation software to make the process effective and efficient. For missense variants, in silico variant prediction tools such as SIFTPolyPhenMutationTaster are used to assist with variant classification. Through our online ordering and statement reporting system, Nucleus, ordering providers have access to the details of the analysis, including patient specific sequencing metrics, a gene level coverage plot and a list of regions with <20X sequencing depth if applicable. This reflects our mission to build fully transparent diagnostics where ordering providers can easily visualize the crucial details of the analysis process.

We provide customers with the most comprehensive report available on the market. Clinical interpretation requires a fundamental understanding of clinical genetics and genetic principles. At Blueprint Genetics, our PhD molecular geneticists prepare the report by assessing the pathogenicity of the identified variants. Our goal is to provide clinically meaningful reports that are understandable for all medical professionals regardless of whether they have formal training in genetics.  

Variant classification is the cornerstone of clinical interpretation and resulting patient management decisions. Our classifications follow the ACMG guideline 2015. Only variants classified as pathogenic or likely pathogenic based on an ACMG/AMP classification scheme will be reported.  

Our screening panel report includes tables for sequencing and copy number variants that include basic variant information (genomic coordinates, HGVS nomenclature, zygosity, allele frequencies, in silico predictions, OMIM phenotypes, and classification of the variant). In addition, the report includes descriptions of the variant and its association with disease. We also provide links to the references, abstracts, and variant databases used to help ordering providers further evaluate the reported findings if desired.  

Identification of pathogenic or likely pathogenic variants in dominant disorders or their combinations in different alleles in recessive disorders are considered molecular confirmation of the clinical diagnosis, or in proactive testing, to confer a risk of developing an inherited disease. In reproductive screening, identification of single pathogenic or likely pathogenic variants in genes related to recessive disorders is considered as a carriership. Disease risk of potential offspring depends on whether both parents have a pathogenic or likely pathogenic variant in the same gene. Reproductive risk related to X-linked disorders may be difficult to estimate due to the possibility of skewed X-chromosome inactivation. Genetic counseling is recommended whenever pathogenic or likely pathogenic variants are reported. 

Reporting focuses on high-quality variants that meet our stringent NGS quality metrics for a true positive call but they are not confirmed with alternative methods. Ordering healthcare professionals should consider further confirmation of the reported variants using a diagnostic test.