Retinitis Pigmentosa NGS Panel

  • Panel Description
  • Test Description
  • CPT Codes
  • Resources

Panel Description

Retinitis Pigmentosa

Retinitis pigmentosa (RP) is a group of rare hereditary disorders that affect vision. These disorders are caused by abnormalities of the photoreceptors of the retina. Early symptoms of RP, such as night blindness or reduced peripheral vision typically develop in childhood or adolescence.   Peripheral vision deficits progress to produce tunnel vision.  Disease progression over years or decades causes central vision loss and may lead to legal or total blindness. The age, rate, and severity of progression vary depending on the gene, the specific pathogenic variant, and environmental factors.

The Fulgent Retinitis Pigmentosa NGS Panel includes genes associated with both non-syndromic and syndromic RP, including Bardet-Biedl syndrome, and Usher syndrome. Genes associated with conditions in the differential diagnosis for RP, such as Leber congenital amaurosis are also included.

This panel is recommended for anyone with a personal or family history of retinitis pigmentosa and/or its associated symptoms. RP is often diagnosed during ophthalmoscope evaluation and electroretinogram (ERG), at which point, providers may recommend genetic testing to confirm the diagnosis.

Patients identified with RP can benefit from assistive steps to manage symptoms and prepare for vision loss. By identifying the specific etiology present, patients and their providers can better prepare for the onset of symptoms and in some cases, patients may qualify for clinical trials.

Genetic testing for RP can:
  • Establish or confirm the appropriate diagnosis
  • Identify risks for additional related symptoms
  • Connect patients to relevant resources & support
  • Result in more personalized treatment and symptom management
  • Prepare patients for the onset of vision loss
  • Inform family members about their own risk factors
  • Provide options for family planning

Test Description

Print
  • Sequencing
  • Del/Dup
  • Rush / STAT
  • Exclude VUS
  • MCC
  • Duo/Trio
3-5 weeks
Call for details
ABCA4, ABHD12, ADGRA3, AIPL1, ARL2BP, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEST1, C1QTNF5, C2orf71, C8orf37, CA4, CACNA1F, CC2D2A, CDH23, CDHR1, CEP290, CERKL, CLN3, CLRN1, CNGA1, CNGB1, CRB1, CRX, CYP4V2, DHDDS, DHX38, EMC1, EYS, FAM161A, FLVCR1, FSCN2, GNPTG, GUCA1B, GUCY2D, HGSNAT, HK1, IDH3B, IFT172, IMPDH1, IMPG2, INPP5E, INVS, IQCB1, KIAA1549, KIZ, KLHL7, LCA5, LRAT, MAK, MERTK, MFRP, MKKS, NEK2, NEUROD1, NMNAT1, NPHP1, NPHP3, NPHP4, NR2E3, NRL, PCDH15, PDE6A, PDE6B, PDE6G, PEX1, PEX2, PEX26, PEX7, PHYH, PITPNM3, PLA2G5, PRCD, PRKCG, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RBP3, RBP4, RD3, RDH11, RDH12, RGR, RHO, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, SAG, SEMA4A, SLC7A14, SNRNP200, SPATA7, SPP2, TOPORS, TRIM32, TRNT1, TTC8, TTPA, TUB, TULP1, USH1C, USH2A, WFS1, WHRN, ZNF408, ZNF513 ( 124 genes )
96% at 20x
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

Gene Notes
RPGR This assay is capable of detecting most pathogenic variants in the critical "ORF15" region of the RPGR gene (NM_001034853.1). However, due to the complexity of this locus, currently available testing cannot completely rule out the presence of variants in a portion of this region: chrX(GRCh37):38144792-38146498.
CPT Code 81407, 81408, 81479

NOTE:  The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.

Resources

DescriptionDownload
Retinitis Pigmentosa