Focused Inherited Retinal Disorders Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
7537 AIPL1 81479,81479 Order Options and Pricing
CABP4 81479,81479
CEP290 81408,81479
CHM 81479,81479
CNGA1 81479,81479
CRB1 81406,81479
CRX 81404,81479
EYS 81479,81479
GUCY2D 81479,81479
IMPDH1 81479,81479
IQCB1 81479,81479
KCNJ13 81479,81479
LCA5 81479,81479
LRAT 81479,81479
NMNAT1 81479,81479
NR2E3 81479,81479
OTX2 81479,81479
PCARE 81479,81479
PDE6A 81479,81479
PDE6B 81479,81479
PRPF8 81479,81479
RD3 81479,81479
RDH12 81479,81479
RDH5 81479,81479
RHO 81404,81479
RP1 81404,81479
RPE65 81406,81479
RPGRIP1 81479,81479
SPATA7 81479,81479
TULP1 81479,81479
USH2A 81408,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
7537Genes x (31)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

Inherited retinal disorders (IRD) are the leading cause of blindness in the western world (1 in 3000 people). Identifying the genetic cause for the IRD is challenging due to genetic heterogeneity. According to the World Health Organization (WHO) and the American Academy of ophthalmology (AAO), ~ 80% of blindness can be prevented or cured or the disease progression could be slowed if detected at early stages. Given these statistics, the importance of early and accurate diagnosis cannot be understated. Currently, molecular diagnosis of the IRD is gaining importance due to the emerging treatments such as gene therapy (Sahel et al. 2014. PubMed ID: 25324231; Chen et al. 2013. PubMed ID: 23661368).

Genetics

Identifying the genetic cause for the IRD is challenging due to genetic heterogeneity. So far, ~300 loci have been mapped and over 250 genes have been identified to be associated with retinal disorders (RetNet). This panel tests AIPL1, PCARE (C2orf71), CABP4, CEP290, CHM, CNGA1, CRB1, CRX, EYS, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, NR2E3, OTX2, PDE6A, PDE6B, PRPF8, RD3, RDH12, RDH5, RHO, RP1, RPE65, RPGRIP1, SPATA7, TULP1 and USH2A.

Pathogenic variants in AIPL1, CABP4, CEP290, CNGA1, EYS, IQCB1, LCA5, LRAT, NMNAT1, PCARE, PDE6A, RD3, RPGRIP1, SPATA7, TULP1 and USH2A cause autosomal recessive (AR) retinal disorders (Chen et al. 2013. PubMed ID: 23661368). Pathogenic variants in PRPF8, and OTX2 cause autosomal dominant (AD) retinal disorders (Bowne et al. 2006. PubMed ID: 16384941; Henderson et al. 2009. PubMed ID: 19956411; Swaroop et al. 1999. PubMed ID: 9931337; Zhao et al. 2006. PubMed ID: 16612614). CRB1, CRX, GUCY2D, IMPDH1, PDE6B, RDH5, RDH12, RP1, KCNJ13, RHO, NR2E3 and RPE65 are implicated in both AD and AR retinal disorders (Kohl et al. 2012. PubMed ID: 22901948; Piri et al. 2005. PubMed ID: 15629837; Wang et al. 2013. PubMed ID: 23847139; Weleber et al. 1993. PubMed ID: 8240110; Udar et al. 2003. PubMed ID: 12552567; Hanein et al. 2002. PubMed ID: 12325031; McKay et al. 2005. PubMed ID: 15623792; Abouzeid et al. 2006. PubMed ID: 16543197; Swaroop et al. 1999. PubMed ID: 9931337. 1999; Hejtmancik et al. 2008. PubMed ID: 18179896). Pathogenic variants in CHM are associated with X-linked choroideremia (van den Hurk et al. 2003. PubMed ID: 12827496). Pathogenic variants in these genes also cause other retinal disorders (Weleber. 2002. PubMed ID: 12187427; Wang et al. 2015. PubMed ID: 26047050; Wang et al. 2013. PubMed ID: 23847139; Online Mendelian Inheritance in Man; Human Gene Mutation Database).

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

Clinical Sensitivity - Sequencing with CNV PGxome

Clinical sensitivity for the AIPL1 (4-8%), CEP290 (20%), CRB1 (10%), CRX (3%), GUCY2D (21%), LCA5 (1-2%), RDH12 (4%), RPE65 (3-16%), RPGRIP1 (5%), TULP1 (1.7%) genes is known (Weleber et al. 2013). The most common genes involved in autosomal recessive (AR) Retinitis Pigmentosa (RP) are USH2A (10-15%), PDE6A (2-5%), PDE6B (2-5%), RPE65 (2-5%), and CNGA1 (1-2%). PCARE and RHO each account for less than 1% of RP cases (Fahim et al. 2013. PubMed ID: 20301590). The most common genes involved in autosomal dominant (AD) RP are RHO (26-28% of RP cases), RP1 (6%), NR2E3 (0.5-1.5%), and PRPF8/RP13 (3%) (Fahim et al. 2013. PubMed ID: 20301590; Daiger et al. 2010. PubMed ID: 20238032; Sullivan et al. 2013. PubMed ID: 23950152). However, for other genes, due to the limited number of cases, estimation of clinical sensitivity is difficult (Hanein et al. 2004. PubMed ID: 15024725; Weleber et al. 2013. PubMed ID: 20301475). Together these genes account for 70-75% of the Leber Congenital Amaurosis cases (Wang et al. 2015. PubMed ID: 26047050; den Hollander et al. 2008. PubMed ID: 18632300).

A study by Perrault et al. (2000) identified two gross deletions and one duplication in GUCY2D out of 118 patients affected with Leber Congenital Amaurosis (Perrault et al. 2000. PubMed ID: 10951519). Copy number variants have also been reported in CEP290, CHM, CRB1, CRX, EYS, GUCY2D, LCA5, MERTK, NMNAT1, PDE6B, PRPF8, RDH12, RHO, RPE65, RPGRIP1, TULP1 and USH2A (Human Gene Mutation Database).

Testing Strategy

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

This panel typically provides 99.7% 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.

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

Candidates for this test are inherited retinal disorders patients, family members of patients who have known pathogenic variants and carrier testing for at-risk family members.

Related Test

Name
PGxome®

Citations

  • Abouzeid et al. 2006. PubMed ID: 16543197
  • Bowne et al. 2006. PubMed ID: 16384941
  • Chen et al. 2013. PubMed ID: 23661368
  • Daiger et al. 2010. PubMed ID: 20238032
  • den Hollander et al. 2008. PubMed ID: 18632300
  • Fahim et al. 2013. PubMed ID: 20301590
  • Hanein et al. 2002. PubMed ID: 12325031
  • Hanein et al. 2004. PubMed ID: 15024725
  • Hejtmancik et al. 2008. PubMed ID: 18179896
  • Henderson et al. 2009. PubMed ID: 19956411
  • http://www.omim.org/
  • Human Gene Mutation Database (Bio-base).
  • Kohl et al. 2012. PubMed ID: 22901948
  • McKay et al. 2005. PubMed ID: 15623792
  • Perrault et al. 2000. PubMed ID: 10951519
  • Piri et al. 2005. PubMed ID: 15629837
  • RetNet: Genes and Mapped Loci Causing Retinal Diseases
  • Sahel et al. 2014. PubMed ID: 25324231
  • Sullivan et al. 2013. PubMed ID: 23950152
  • Swaroop et al. 1999. PubMed ID: 9931337
  • Udar et al. 2003. PubMed ID: 12552567
  • van den Hurk et al. 2003. PubMed ID: 12827496
  • Wang et al. 2013. PubMed ID: 23847139
  • Wang et al. 2015. PubMed ID: 26047050
  • Weleber et al. 1993. PubMed ID: 8240110
  • Weleber et al. 2013. PubMed ID: 20301475
  • Weleber. 2002. PubMed ID: 12187427
  • Zhao et al. 2006. PubMed ID: 16612614

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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