Stargardt Disease (STGD) and Macular Dystrophies Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
4315 ABCA4 81408,81479 Order Options and Pricing
BEST1 81406,81479
C1QTNF5 81479,81479
CDH3 81479,81479
CERKL 81479,81479
CFH 81479,81479
CNGB3 81479,81479
CRB1 81406,81479
CTNNA1 81479,81479
EFEMP1 81479,81479
ELOVL4 81479,81479
FSCN2 81479,81479
GUCA1B 81479,81479
HMCN1 81479,81479
IMPG1 81479,81479
IMPG2 81479,81479
MFSD8 81479,81479
PRDM13 81479,81479
PROM1 81479,81479
PRPH2 81404,81479
RBP3 81479,81479
RDH12 81479,81479
RLBP1 81479,81479
RP1L1 81479,81479
RPGR 81479,81479
RPGRIP1 81479,81479
RS1 81479,81479
TIMP3 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
4315Genes x (28)81479 81404, 81406, 81408, 81479 $890 Order Options and Pricing

Pricing Comments

We are happy to accommodate requests for testing single genes in this panel or a subset of these genes. The price will remain the list price. If desired, free reflex testing to remaining genes on panel is available. Alternatively, a single gene or subset of genes can also be ordered via our PGxome Custom Panel tool.

An additional 25% charge will be applied to STAT orders. STAT orders are prioritized throughout the testing process.

For Reflex to PGxome pricing click here.

Turnaround Time

18 days on average for standard orders or 14 days on average for STAT orders.

Once a specimen has started the testing process in our lab, the most accurate prediction of TAT will be displayed in the myPrevent portal as an Estimated Report Date (ERD) range. We calculate the ERD for each specimen as testing progresses; therefore the ERD range may differ from our published average TAT. View more about turnaround times here.

Targeted Testing

For ordering sequencing of targeted known variants, go to our Targeted Variants page.

EMAIL CONTACTS

Genetic Counselors

Geneticist

Clinical Features and Genetics

Clinical Features

Stargardt disease (STGD) is a juvenile onset form of macular dystrophy/degeneration (MD) characterized by loss of photoreceptor cells in the macula, resulting in a severe reduction of central vision with a variable phenotype and a variable age of onset and severity. STGD is considered one of the most frequent causes of MD in childhood, accounting for approximately 7% of all retinal degenerative diseases with an estimated prevalence of 1 in 10,000 and a carrier frequency of 2% (Shastry. 2008. PubMed ID: 18506364). Clinical features include progressive bilateral degeneration of the macula and retinal pigment epithelium (RPE) with characteristic orange-yellow flecks located around the macula or the mid peripheral retina (Rossi et al. 2012. PubMed ID: 23341817). The hallmark of STGD is massive accumulation of cellular debris, presumably lipofuscin in the RPE (usually seen in normal aging human eyes) (Fishman et al. 1987. PubMed ID: 3658351), which is clinically similar to fundus flavimaculatus (FFM) that has a later age of onset (20-64 years) and slower progression or milder visual loss compared to STGD (Kaplan et al. 1993. PubMed ID: 8275096).

Genetics

Genetically, STGD is a heterogeneous disorder that is usually inherited in an autosomal recessive (AR) manner and, less commonly, as an autosomal dominant (AD) trait (Rossi et al. 2012. PubMed ID: 23341817). Using homozygosity mapping, the STGD1/FFM disease locus was mapped to the short arm of chromosome 1, and the causative gene characterized as ABCA4 (Kaplan et al. 1993. PubMed ID: 8275096; Allikmets et al. 1997. PubMed ID: 9054934). Panel-based next generation sequencing has identified other genes (BEST1, C1QTNF5, CDH3, CNGB3, ELOVL4, FSCN2, PROM1, PRPH2, RDH12, RP1L1, RPGR, TIMP3, RBP3, RPGRIP1, EFEMP1, GUCA1B, CERKL, CRB1, RLBP1, RS1, IMPG2, CTNNA1, HMCN1, CFH, IMPG1, MFSD8, and PRDM13) reported to cause STGD like phenotype or macular dystrophies similar to STGD (Zhang et al. 2014. PubMed ID: 24763286; Strom et al. 2012. PubMed ID: 22863181; Petrukhin et al. 1998. PubMed ID: 9662395; Glöckle et al. 2014. PubMed ID: 23591405; Zaneveld et al. 2015. PubMed ID: 25474345; Saksens et al. 2016. PubMed ID: 26691986; Small et al. 2016. PubMed ID: 26507665).

Please note that this test also targets the five variants in the upstream region of the PRDM13 gene that were reported to segregate with disease in the 102 affected and 39 unaffected members of the 12 North Carolina macular dystrophy (NCMD) families (Small et al. 2016. PubMed ID: 26507665).

See individual gene test descriptions for information on molecular biology of gene products and spectra of pathogenic variants.

Clinical Sensitivity - Sequencing with CNV PGxome

Due to genetic heterogeneity and phenotypic overlap, determining clinical sensitivity is difficult. A study that screened 23 families with both Stargardt disease (STGD) and Age-related Macular Degeneration (AMD), detected causative ABCA4 pathogenic variants in 37/46 chromosomes (80%), which is substantially higher than the previous reports (~63%) (Shroyer et al. 2001. PubMed ID: 11726554; Yatsenko et al. 2003. PubMed ID: 12754711).

Large deletions/duplications have been reported in ABCA4, BEST1, CDH3,CNGB3, PROM1, PRPH2, RDH12, RPGR, RPGRIP1, CRB1, RLBP1, RS1, CFH, and IMPG2 (Human Gene Mutation Database).

Testing Strategy

This test is performed using Next-Gen sequencing with additional Sanger sequencing as necessary.

This panel typically provides 98.8% coverage of all coding exons of the genes plus 10 bases of flanking noncoding DNA in all available transcripts along with other non-coding regions in which pathogenic variants have been identified at PreventionGenetics or reported elsewhere. We define coverage as ≥20X NGS reads or Sanger sequencing.

RP1L1 does not have 100% coverage for a few regions in exon 4.

This test also targets the five variants in the upstream region of the PRDM13 gene (see the Genetics section).

We also test a deep intronic variant (c.2077-521A>G) in PROM1 (Mayer et al. 2016. PubMed ID: 26153215).

We do not test for all the deep intronic variants in ABCA4. However, if we find a pathogenic or a likely pathogenic in ABCA4 or another of these genes in this panel, we will perform Sanger backfill of the remainder of the gene.

The following list of deep intronic variants in ABCA4 are tested when a single likely pathogenic or pathogenic variant is identified: c.161-23T>A, c.570+1798A>G, c.769-784C>T, c.859-506G>C, c.859-540C>G, c.1937+435C>G, c.1938-619A>G, c.2160+584A>G, c.2919-826T>A, c.3050+370C>T, c.4253+43G>A, c.4539+1100A>G, c.4539+2001G>A, c.4539+2028C>T, c.4539+2064C>T, c.5196+1056A>G, c.5196+1136C>A, c.5196+1137G>T, c.5196+1159G>A, c.5196+1216C>A, c. 6006-609T>A, c.6148-471C>T.

We do not have coverage for the RPGR ORF15 region in this panel.

Since this test is performed using exome capture probes, a reflex to any of our exome based tests is available (PGxome, PGxome Custom Panels).

Indications for Test

All patients with symptoms suggestive of Stargardt and macular dystrophies are candidates.

Related Test

Name
PGxome®

Citations

  • Allikmets et al. 1997. PubMed ID: 9054934
  • Fishman et al. 1987. PubMed ID: 3658351
  • Glöckle et al. 2014. PubMed ID: 23591405
  • Human Gene Mutation Database (Bio-base).
  • Kaplan et al. 1993. PubMed ID: 8275096
  • Mayer et al. 2016. PubMed ID: 26153215
  • Petrukhin et al. 1998. PubMed ID: 9662395
  • Rossi et al. 2012. PubMed ID: 23341817
  • Saksens et al. 2016. PubMed ID: 26691986
  • Shastry. 2008. PubMed ID: 18506364
  • Shroyer et al. 2001. PubMed ID: 11726554
  • Small et al. 2016. PubMed ID: 26507665
  • Strom et al. 2012. PubMed ID: 22863181
  • Yatsenko et al. 2003. PubMed ID: 12754711
  • Zaneveld et al. 2015. PubMed ID: 25474345
  • Zhang et al. 2014. PubMed ID: 24763286

Ordering/Specimens

Ordering Options

We offer several options when ordering sequencing tests. For more information on these options, see our Ordering Instructions page. To view available options, click on the Order Options button within the test description.

myPrevent - Online Ordering

  • The test can be added to your online orders in the Summary and Pricing section.
  • Once the test has been added log in to myPrevent to fill out an online requisition form.

Requisition Form

  • A completed requisition form must accompany all specimens.
  • Billing information along with specimen and shipping instructions are within the requisition form.
  • All testing must be ordered by a qualified healthcare provider.

For Requisition Forms, visit our Forms page


Specimen Types

Specimen Requirements and Shipping Details

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ORDER OPTIONS

View Ordering Instructions

1) Select Test Type


2) Select Additional Test Options

STAT and Prenatal Test Options are not available with Patient Plus.

No Additional Test Options are available for this test.

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