Whole Genome Del/Dup (CNV)

Test code: WG0101

Our whole genome sequencing Del/Dup (CNV) test has a potential to replace CGH arrays and classic karyotype analysis and thus improve the diagnostic yield of first-line genetic screening of patients with clinical suspicion of large chromosomal abnormalities or any microdeletion/microduplication syndromes. These are syndromes such as DiGeorge syndrome, Prader–Willi syndrome, Angelman syndrome, Williams syndrome, Rubinstein–Taybi syndrome and Wolf–Hirschhorn syndrome.

Blueprint’s Whole Genome Del/Dup test provides essentially better resolutions than array-based techniques and allows a possibility of mapping the exact CNV location. Results in just 10 days.

Heritability of chromosomal abnormalities is difficult to estimate without established molecular mechanism due to highly variable inheritance patterns. About 93% of probands with DiGeorge syndrome have a de novo deletion of 22q11.2 and 7% have inherited the 22q11.2 deletion from a parent. AZF microdeletion belongs to Y chromosome derived infertilities where the deletions are usually de novo and therefore not present in the father of the proband. Angelman syndrome (AS) is caused by disruption of maternally imprinted UBE3A located within the 15q11.2-q13 region. The risk to sibs of a proband depends on the genetic mechanism leading to the loss of UBE3A function: typically less than 1% risk when the disease is caused by a deletion or uniparental disomy, and as high as 50% when the disease is caused by an imprinting defect or a pathogenic sequence variant in UBE3A. Most of the chromosome level disorders such as Down syndrome and Turner syndrome are not generally inherited from one generation to the next.

About Whole Genome Del/Dup (CNV)

There is a large number of syndromes caused by different chromosomal level abnormalities and smaller microdeletions and microduplications. These syndromes have highly variable inheritance patterns, disease progression, and prognosis, thus establishing genetic mechanism behind the disease is essential for patients and their families but is also a basis for well-informed treatment decisions in these conditions.

Main Phenotypes

prevalence/incidence

ICD code

Microdeletion/Microduplication Syndromes
 Q93.88
Di George syndrome 1:2 000 – 4 000 Q93.81
Charcot–Marie–Tooth 1A 1:10 000 Q93.88
Prader–Willi syndrome 1:10 000 – 30 000 Q87.1
Angelman syndrome 1:12 000 – 24 000 Q93.5
Smith–Magenis syndrome 1:15 000 – 25 000 Q93.88
Cri–du-Chat syndrome 1:15 000 – 50 000 Q93.4
Williams–Beuren syndrome 1:20 000 Q93.88
Pitt–Hopkins syndrome 1:34 000 – 41 000 Q93.88
Wolf–Hirschhorn syndrome 1:50 000 Q93.3
Chromosomal abnormalities
47, XXY; Klinefelter syndrome 1:500 – 1 000 males Q98.0
Trisomy 21; Down syndrome 1:800 – 1 100 Q90.9
47, XXX; Triple X syndrome 1:1 000 females Q97.0
47, XYY 1:1 000 males Q98.5
45, X; Turner syndrome 1:2 500 females Q96.9
Trisomy 18; Edwards syndrome 1:6 000 Q91.0
Trisomy-13; Patau syndrome 1:16 000 Q91.4
Campomelic dysplasia; 17q24.3-q25.1 1:40 000 – 200 000

ADDITIONAL Phenotypes

prevalence/incidence

ICD code

AZF microdeletion 1:2 000 – 10 000 N46.0
Microdeletion 15q13.3 1:3 300 Q93.88
Microduplication 16p11.2 1:3 300 Q93.88
Microdeletion 1p36 1:5 000 – 10 000 Q93.88
Microdeletion 16p11.2 1:5 000 – 10 000 Q93.88
Hereditary liability to pressure palsies 1:6 250 – 50 000 Z15.89
Microduplication 8p23.1 1:11 000 – 100 000 Q93.88
Microdeletion 1p32.2 1:15 000 Q93.88
Mowat–Wilson syndrome 1:50 000 – 70 000 Q93.88
Cat-Eye syndrome 1:50 000 – 150 000 Q92.8
Neurofibromatosis 1 1:60 000 Q85.01
Transient neonatal diabetes mellitus 1 1:95 000 – 400 000 P70.2
Find more info in Support

Analysis method

$
Del/Dup (CNV)
$ 1200
Total $
Order now

ICD & CPT codes

CPT codes

DEL/DUP 81228

Accepted sample types

For Whole Exome tests, sample requirements are:

When Whole Exome Family or Whole Exome Family Plus product is ordered, we require to send samples from first-degree relatives of the index patient at the start of testing.

Subscribe to our newsletter