CEP290 single gene test

  • bpg-method Plus Analysis (Sequence + Del/Dup (CNV))

Test code: S00354

Phenotype information

  • Bardet-Biedl syndrome
  • Leber congenital amaurosis
  • Joubert syndrome
  • Senior-Loken syndrome
  • Meckel syndrome

Alternative gene name

KIAA0373, FLJ13615, 3H11AG, RD16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3

Some regions of the gene are duplicated in the genome leading to limited sensitivity within the regions. Thus, low-quality variants are filtered out from the duplicated regions and only high-quality variants confirmed by other methods are reported out. Read more.

Panels that include the gene

Gene Genomic location HG19 HGVS RefSeq RS-number Comment Reference
CEP290 Chr12:88494960 c.2991+1655A>G NM_025114.3 rs281865192

For pricing inquiries, please contact (support@blueprintgenetics.com) or call the sales support team +358 40 2511 372.

Total $
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Accepted sample types

  • EDTA blood, min. 1 ml
  • Purified DNA, min. 5μg
  • Saliva (Oragene DNA OG-500 kit)

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

Note that we do not accept DNA samples isolated from formalin-fixed paraffin-embedded (FFPE) tissue.

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