Retinitis pigmentosa: ADRP, ARRP, XLRP (inc. RPGR ORF15 region)

Genes
(full coding
region):		 ABCA4, AIPL1, ARL6, BEST1, PCARE(C2orf71),CFAP418(C8ORF37), CA4, CERKL, CLRN1, CNGA1, CNGB1, CNGB3, CRB1,
CRX, DHDDS, EYS, FAM161A, FLVCR1, FSCN2, GUCA1B, IDH3B, IMPDH1, KLHL7, IMPG2, LRAT, MAK, MERTK, NR2E3, NRL,
OFD1, PDE6A, PDE6B, PDE6G, PRCD, PROM1, PRKCG, PRPF3, PRPF6, PRPF8, PRPF31, PRPH2, RBP3, RDH12, RGR, RHO,
RLBP1, ROM1 RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SNRNP200, SPATA7, TOPORS, TTC8, TULP1, USH2A, ZNF513
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Sequencing of selected regions

Genes: RPGR gene ORF15 region and deletions in exons 15a and 15b
Lab method: Sequencing of selected regions (Sanger sequencing)
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis – if needed

A copy number variation found in the NGS panel analysis is recommended to be confirmed with a del/dup analysis. In such cases, we will inform about the need for additional analysis.

Indications for genetic testing:

    1. Confirmation of clinical diagnosis
    2. Determination of carrier status
    3. Prenatal diagnosis for known familial mutation
    4. Genetic counseling

    Retinitis pigmentosa is a hereditary retinal dystrophy characterized by the gradual degeneration of photoreceptors. The symptoms of the disease include narrowing of the visual field, night blindness, and changes in the fundus of the eye. Retinitis pigmentosa is usually inherited in an autosomal recessive manner, accounting for 84% of all cases. Autosomal dominant retinitis pigmentosa occurs in 10% of cases, while X-linked retinitis pigmentosa accounts for 6%. The prevalence of retinitis pigmentosa is estimated to be between 1 in 3,000 and 1 in 5,000 individuals.