Autosomal Recessive Retinitis Pigmentosa (RP) Panel

Summary and Pricing

Test Method

Exome Sequencing with CNV Detection
Test Code Test Copy Genes Gene CPT Codes Copy CPT Codes
4311 ABCA4 81408,81479 Order Options and Pricing
ABHD12 81479,81479
ADGRA3 81479,81479
AIPL1 81479,81479
ARL2BP 81479,81479
ARL6 81479,81479
BEST1 81406,81479
CDHR1 81479,81479
CEP290 81408,81479
CERKL 81479,81479
CFAP418 81479,81479
CLN3 81479,81479
CLRN1 81404,81479
CNGA1 81479,81479
CNGB1 81479,81479
CRB1 81406,81479
EMC1 81479,81479
EYS 81479,81479
FAM161A 81479,81479
FLVCR1 81479,81479
GUCY2D 81479,81479
IDH3B 81479,81479
IMPG2 81479,81479
INPP5E 81479,81479
KIAA1549 81479,81479
LCA5 81479,81479
LRAT 81479,81479
MAK 81479,81479
MERTK 81479,81479
MFRP 81479,81479
NEUROD1 81479,81479
NR2E3 81479,81479
NRL 81479,81479
PCARE 81479,81479
PDE6A 81479,81479
PDE6B 81479,81479
PDE6G 81479,81479
PLA2G5 81479,81479
PRCD 81479,81479
PROM1 81479,81479
PRPF31 81479,81479
RBP3 81479,81479
RD3 81479,81479
RDH12 81479,81479
RGR 81479,81479
RHO 81404,81479
RLBP1 81479,81479
RP1 81404,81479
RPE65 81406,81479
RPGRIP1 81479,81479
SAG 81479,81479
SEMA4A 81479,81479
SLC7A14 81479,81479
SPATA7 81479,81479
TTC8 81479,81479
TULP1 81479,81479
USH2A 81408,81479
ZNF513 81479,81479
Test Code Test Copy Genes Panel CPT Code Gene CPT Codes Copy CPT Code Base Price
4311Genes x (58)81479 81404, 81406, 81408, 81479 $1030 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

Retinitis pigmentosa (RP) represents a group of hereditary retinal dystrophies with a worldwide prevalence of ~1 in 4000 (Booij 2005). RP is clinically characterized by retinal pigment deposits visible on fundus examination, nyctalopia (night blindness), followed by progressive degeneration of the photoreceptors, which eventually leads to blindness (van Soest et al. 1999).

Genetics

Nonsyndromic and syndromic RP is remarkably heterogeneous both clinically and genetically and exhibits autosomal dominant (AD, 15%-25% of the cases), autosomal recessive (AR, 5%-20% of the cases) or X-linked (XL, 5%-15% of the cases) inheritance (Fahim et al. 2013). Unknown, simplex cases (single occurrence in a family) account for 40%-50%of cases and rarely digenic inheritance has been reported (Fahim et al. 2013). To date, over 80 genes have been linked to RP (RetNet; Daiger et al. 2007; Daiger et al. 2013; Audo et al. 2012; Neveling et al. 2012; Fu et al. 2013; Zhao et al. 2015; http://www.omim.org/; Human Gene Mutation Database), but likely more RP genes remain to be discovered (Daiger et al. 2010; Daiger et al. 2013; Perez-Carro et al. 2016).

The most common genes involved in AR RP are USH2A (10-15%), ABCA4 (2-5%), PDE6A (2-5%), PDE6B (2-5%), RPE65 (2-5%), and CNGA1 (1-2%). BEST1, PCARE (C2ORF71), C8ORF37, CLRN1, CNGB1, DHDDS, FAM161A, IDH3B, IMPG2, LRAT, MAK, MERTK, NRL, PDE6G, PRCD, PROM1, RBP3, RGR, RHO, RLBP1, RP1, SAG, SPATA7, TTC8, CERKL, TULP1, ZNF513, and ARL6 each account for less than 1% of RP cases (Fahim et al. 2013).See individual gene test descriptions for more information on molecular biology of gene products.

Clinical Sensitivity - Sequencing with CNV PGxome

It is now possible to detect disease-causing pathogenic variants in about 30% of patients with recessive RP (Daiger et al. 2010).

Genomic rearrangements in PRPF31 are now known to account for 2.5% of AD RP (Sullivan et al. 2006). Relatively common deletions and rearrangements are also found in ABCA4, which is causative for AR RP (Yatsenko et al. 2003). In addition, copy number variants have been reported in ABHD12, ARL6, BEST1, CEP290, CRB1, EYS, GUCY2D, IMPG2, MERTK, NR2E3, PDE6B, PRPF31, PRPH2, RDH12, RHO, RLBP1, RPE65, RPGRIP1, SAG, SPATA7, 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 99.8% 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.

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 Retinitis pigmentosa are candidates.

Diseases

Name Inheritance OMIM ID
Bothnia Retinal Dystrophy AR 607475
Cerebellar Atrophy, Vsual Impairment, and Psychomotor Retardation AR 616875
Cone-Rod Dystrophy 13 AR 608194
Cone-Rod Dystrophy 15 AR 613660
Cone-rod dystrophy 16 AR 614500
Cone-Rod Dystrophy 6 AR 601777
Fleck Retina, Familial Benign AR 228980
Joubert Syndrome 5 AR 610188
Leber Congenital Amaurosis 10 AR 611755
Leber Congenital Amaurosis 12 AR 610612
Leber Congenital Amaurosis 13 AR 612712
Leber Congenital Amaurosis 14 AR 613341
Leber Congenital Amaurosis 3 AR 604232
Leber Congenital Amaurosis 4 AR 604393
Leber Congenital Amaurosis 6 AR 613826
Microphthalmia, Isolated 5 AR 611040
MORM Syndrome AR 610156
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract AR 612674
Posterior Column Ataxia With Retinitis Pigmentosa AR 609033
Retinitis Pigmentosa AD,AR 268000
Retinitis Pigmentosa 12 AR 600105
Retinitis Pigmentosa 14 AR 600132
Retinitis Pigmentosa 19 AR 601718
Retinitis Pigmentosa 20 AR 613794
Retinitis Pigmentosa 25 AR 602772
Retinitis Pigmentosa 26 AR 608380
Retinitis Pigmentosa 28 AR 606068
Retinitis Pigmentosa 35 AR, AD 610282
Retinitis Pigmentosa 36 AR 610599
Retinitis Pigmentosa 37 AR, AD 611131
Retinitis Pigmentosa 38 AR 613862
Retinitis Pigmentosa 39 AR 613809
Retinitis Pigmentosa 4 AR, AD 613731
Retinitis Pigmentosa 40 AR 613801
Retinitis Pigmentosa 41 AR 612095
Retinitis Pigmentosa 42 AR 612943
Retinitis Pigmentosa 43 AR 613810
Retinitis Pigmentosa 44 AD,AR 613769
Retinitis Pigmentosa 45 AR 613767
Retinitis Pigmentosa 46 AR 612572
Retinitis Pigmentosa 47 AR 613758
Retinitis Pigmentosa 49 AR 613756
Retinitis Pigmentosa 50 AR, AD 613194
Retinitis Pigmentosa 51 AR 613464
Retinitis Pigmentosa 54 AR 613428
Retinitis Pigmentosa 55 AR 613575
Retinitis Pigmentosa 56 AR 613581
Retinitis Pigmentosa 57 AR 613582
Retinitis Pigmentosa 59 AR 613861
Retinitis Pigmentosa 61 AR 614180
Retinitis Pigmentosa 62 AR 614181
Retinitis Pigmentosa 66 AR 615233
Retinitis Pigmentosa 68 AR 615725
Retinitis Pigmentosa with or without Situs Inversus AR 615434
Senior-Loken Syndrome 6 AR 610189

Related Test

Name
PGxome®

Citations

  • Audo I. et al. 2012. Orphanet Journal of Rare Diseases. 7: 8. PubMed ID: 22277662
  • Booij J.C. et al. 2005. Journal of Medical Genetics. 42: e67. PubMed ID: 16272259
  • Daiger S.P. et al. 2007. Archives of Ophthalmology. 125: 151-8. PubMed ID: 17296890
  • Daiger S.P. et al. 2010. Advances in Experimental Medicine and Biology. 664: 325-31. PubMed ID: 20238032
  • Daiger S.P. et al. 2013. Clinical genetics. 84: 132-41. PubMed ID: 23701314
  • Fahim A.T. et al. 2013. Retinitis Pigmentosa Overview. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong C-T, Smith RJ, and Stephens K, editors. GeneReviews(®), Seattle (WA): University of Washington, Seattle. PubMed ID: 20301590
  • Fu Q. et al. 2013. Investigative Ophthalmology & Visual Science. 54: 4158-66. PubMed ID: 23661369
  • http://www.omim.org/
  • Human Gene Mutation Database (Bio-base).
  • Neveling K. et al. 2012. Human Mutation. 33: 963-72. PubMed ID: 22334370
  • Perez-Carro R. et al. 2016. Scientific Reports. 6: 19531.  PubMed ID: 26806561
  • Sullivan L.S. et al. 2006. Investigative Ophthalmology & Visual Science. 47: 4579-88. PubMed ID: 17003455
  • van Soest S. et al. 1999. Survey of Ophthalmology. 43: 321-34. PubMed ID: 10025514
  • Yatsenko A.N. et al. 2003. Human Mutation. 21:636-44. PubMed ID: 12754711
  • Zhao L. et al. 2015. Human Genetics. 134: 217-30.  PubMed ID: 25472526

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

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2) Select Additional Test Options

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

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