Retinitis Pigmentosa Sequencing Panel

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000556332.3
Last updated: 2019-05-07
Test version history
- 556332.3, last updated: 2019-05-07
- 556332.2, last updated: 2019-01-15
- 556332.1, last updated: 2018-05-18

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Retinitis pigmentosa 39
Offered by Greenwood Genetic Center Diagnostic Laboratories

Overview

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis

102 conditions tested. Click Indication tab for more information.

Retinitis pigmentosa 39 (RP39)
Bardet-Biedl syndrome 1 (BBS1)
Bardet-Biedl syndrome 8 (BBS8)
Bestrophinopathy, autosomal recessive (ARB)
Bietti crystalline corneoretinal dystrophy (BCD)
Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR)
Choroidal dystrophy, central areolar 2 (CACD2)
Choroideremia (CHM)
Cone-rod dystrophy 15 (CORD15)
Cone-rod dystrophy 6 (CORD6)
Cone-rod dystrophy, X-linked 1 (CORDX1)
Congenital stationary night blindness, autosomal dominant 1 (CSNBAD1)
Joubert syndrome (JBTS)
Joubert syndrome 10 (JBTS10)
Juvenile neuronal ceroid lipofuscinosis (CLN3)
Late-onset retinal degeneration (LORD)
Leber congenital amaurosis 1 (LCA1)
Leber congenital amaurosis 12 (LCA12)
Leber congenital amaurosis 13 (LCA13)
Leber congenital amaurosis 14 (LCA14)
Leber congenital amaurosis 3 (LCA3)
Leber congenital amaurosis 4 (LCA4)
Leber congenital amaurosis 5 (LCA5)
Leber congenital amaurosis 6 (LCA6)
Macular degeneration, X-linked atrophic
Macular dystrophy, vitelliform, adult-onset (VMD3)
Microphthalmia, isolated 5 (MCOP5)
Microphthalmia, isolated, with coloboma 10 (MCOPCB10)
Occult macular dystrophy (OCMD)
Patterned dystrophy of retinal pigment epithelium (MDPT1)
Pigmentary retinal dystrophy
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC)
Posterior column ataxia with retinitis pigmentosa (AXPC1)
Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia (SRTD9)
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome (RDCCAS)
Retinitis Pigmentosa 23 (RP23)
Retinitis Pigmentosa, Dominant
Retinitis Pigmentosa, Recessive
Retinitis pigmentosa 1 (RP1)
Retinitis pigmentosa 10 (RP10)
Retinitis pigmentosa 11 (RP11)
Retinitis pigmentosa 12 (RP12)
Retinitis pigmentosa 13 (RP13)
Retinitis pigmentosa 14 (RP14)
Retinitis pigmentosa 15 (RP3)
Retinitis pigmentosa 17 (RP17)
Retinitis pigmentosa 18 (RP18)
Retinitis pigmentosa 19 (RP19)
Retinitis pigmentosa 2 (RP2)
Retinitis pigmentosa 20 (RP20)
Retinitis pigmentosa 25 (RP25)
Retinitis pigmentosa 26 (RP26)
Retinitis pigmentosa 27 (RP27)
Retinitis pigmentosa 28 (RP28)
Retinitis pigmentosa 30 (RP30)
Retinitis pigmentosa 31 (RP31)
Retinitis pigmentosa 33 (RP33)
Retinitis pigmentosa 35 (RP35)
Retinitis pigmentosa 36 (RP36)
Retinitis pigmentosa 37 (RP37)
Retinitis pigmentosa 38 (RP38)
Retinitis pigmentosa 4 (RP4)
Retinitis pigmentosa 40 (RP40)
Retinitis pigmentosa 41 (RP41)
Retinitis pigmentosa 42 (RP42)
Retinitis pigmentosa 43 (RP43)
Retinitis pigmentosa 44 (RP44)
Retinitis pigmentosa 45 (RP45)
Retinitis pigmentosa 46 (RP46)
Retinitis pigmentosa 47 (RP47)
Retinitis pigmentosa 48 (RP48)
Retinitis pigmentosa 49 (RP49)
Retinitis pigmentosa 50 (RP50)
Retinitis pigmentosa 51 (RP51)
Retinitis pigmentosa 54 (RP54)
Retinitis pigmentosa 55 (RP55)
Retinitis pigmentosa 56 (RP56)
Retinitis pigmentosa 57 (RP57)
Retinitis pigmentosa 58 (RP58)
Retinitis pigmentosa 59 (RP59)
Retinitis pigmentosa 60 (RP60)
Retinitis pigmentosa 61 (RP61)
Retinitis pigmentosa 62 (RP62)
Retinitis pigmentosa 64 (RP64)
Retinitis pigmentosa 67 (RP67)
Retinitis pigmentosa 68 (RP68)
Retinitis pigmentosa 69 (RP69)
Retinitis pigmentosa 7 (RP7)
Retinitis pigmentosa 7, digenic
Retinitis pigmentosa 70 (RP70)
Retinitis pigmentosa 72 (RP72)
Retinitis pigmentosa 74 (RP74)
Retinitis pigmentosa 75 (RP75)
Retinitis pigmentosa 76 (RP76)
Retinitis pigmentosa 79 (RP79)
Retinitis pigmentosa 82 with or without situs inversus (RP82)
Retinitis pigmentosa 9 (RP9)
Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
Retinitis punctata albescens
Senior-Loken syndrome 8 (SLSN8)
Vitelliform macular dystrophy type 2 (VMD2)
Vitreoretinochoroidopathy (VRCP)

Molecular Genetics
CSequence analysis of the entire coding region Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

89 genes and variants. Click Methodology tab for more information.

Genes

Gene: ABCA4 (1p22.1)
Gene: ABHD12 (20p11.21)
Gene: AGBL5 (2p23.3)
Gene: AIPL1 (17p13.2)
Gene: ARL2BP (16q13)
Gene: ARL3 (10q24.32)
Gene: ARL6 (3q11.2)
Gene: BBS1 (11q13.2)
Gene: BBS2 (16q13)
Gene: BEST1 (11q12.3)
Gene: C1QTNF5 (11q23.3)
Gene: C8orf37 (8q22.1)
Gene: CA4 (17q23.1)
Gene: CDHR1 (10q23.1)
Gene: CEP290 (12q21.32)
Gene: CERKL (2q31.3)
Gene: CHM (Xq21.2)
Gene: CLN3 (16p12.1)
Gene: CLRN1 (3q25.1)
Gene: CNGA1 (4p12)
Gene: CNGB1 (16q21)
Gene: CRB1 (1q31.3)
Gene: CRX (19q13.33)
Gene: CYP4V2 (4q35.1-35.2)
Gene: DHDDS (1p36.11)
Gene: EMC1 (1p36.13)
Gene: EYS (6q12)
Gene: FAM161A (2p15)
Gene: FLVCR1 (1q32.3)
Gene: FSCN2 (17q25.3)
Gene: GUCA1B (6p21.1)
Gene: GUCY2D (17p13.1)
Gene: HK1 (10q22.1)
Gene: IDH3B (20p13)
Gene: IFT140 (16p13.3)
Gene: IMPDH1 (7q32.1)
Gene: IMPG2 (3q12.3)
Gene: KIZ (20p11.23)
Gene: KLHL7 (7p15.3)
Gene: LCA5 (6q14.1)
Gene: LRAT (4q32.1)
Gene: MAK (6p24.2)
Gene: MERTK (2q13)
Gene: MFRP (11q23.3)
Gene: MVK (12q24.11)
Gene: NEK2 (1q32.3)
Gene: NEUROD1 (2q31.3)
Gene: NR2E3 (15q23)
Gene: NRL (14q11.2-12)
Gene: OFD1 (Xp22.2)
Gene: PCARE (2p23.2)
Gene: PDE6A (5q32)
Gene: PDE6B (4p16.3)
Gene: PDE6G (17q25.3)
Gene: POMGNT1 (1p34.1)
Gene: PRCD (17q25.1)
Gene: PROM1 (4p15.32)
Gene: PRPF3 (1q21.2)
Gene: PRPF31 (19q13.42)
Gene: PRPF4 (9q32)
Gene: PRPF6 (20q13.33)
Gene: PRPF8 (17p13.3)
Gene: PRPH2 (6p21.1)
Gene: RBP4 (10q23.33)
Gene: RD3 (1q32.3)
Gene: RDH12 (14q24.1)
Gene: RGR (10q23.1)
Gene: RHO (3q22.1)
Gene: RLBP1 (15q26.1)
Gene: ROM1 (11q12.3)
Gene: RP1 (8q11.23-12.1)
Gene: RP1L1 (8p23.1)
Gene: RP2 (Xp11.3)
Gene: RP9 (7p14.3)
Gene: RPE65 (1p31.3)
Gene: RPGR (Xp11.4)
Gene: RPGRIP1 (14q11.2)
Gene: SAG (2q37.1)
Gene: SEMA4A (1q22)
Gene: SLC7A14 (3q26.2)
Gene: SNRNP200 (2q11.2)
Gene: SPATA7 (14q31.3)
Gene: TOPORS (9p21.1)
Gene: TTC8 (14q31.3)
Gene: TULP1 (6p21.31)
Gene: USH2A (1q41)
Gene: WDR19 (4p14)
Gene: ZNF408 (11p11.2)
Gene: ZNF513 (2p23.3)

Not provided

Order URL HelpLink to the laboratory webpage with information about how to order this test. Please note that clicking on this link will open a new tab in your internet browser.: https://www.ggc.org/test-finder-item/retinitis-pigmentosa-sequencing-panel

Clinical Testing/Confirmation of Mutations Identified Previously

Reviews

Clinical resources

Molecular resources

Consumer resources

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Retinitis Pigmentosa Sequencing Panel

Overview

Test name

Purpose of the test

Condition

Methodology

Summary of what is tested

Genes

Clinical validity

Clinical utility

How to order

Test services

Reviews

Clinical resources

Molecular resources

Consumer resources

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