ABCA4 single gene test

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

Test code: S00008

Phenotype information

  • Stargardt disease
  • Retinitis pigmentosa
  • Cone rod dystrophy
  • Retinal dystrophy, early-onset severe
  • Fundus flavimaculatus

Alternative gene name

FFM, ARMD2, CORD3

Panels that include the gene

Gene Genomic location HG19 HGVS RefSeq RS-number Comment Reference
ABCA4 Chr1:94576926 c.302+68C>T NM_000350.2 rs761188244
ABCA4 Chr1:94493073 c.4539+1928C>T NM_000350.2
ABCA4 Chr1:94493000 c.4539+2001G>A NM_000350.2
ABCA4 Chr1:94492973 c.4539+2028C>T NM_000350.2 rs869320785
ABCA4 Chr1:94484082 c.5196+1056A>G NM_000350.2
ABCA4 Chr1:94484001 c.5196+1137G>A NM_000350.2 rs778234759
ABCA4 Chr1:94484001 c.5196+1137G>T NM_000350.2

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

Total $
Currently unavailable in your country

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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