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Genetic Labs

Houston, Texas

Genetic Laboratory
Medical Genetics Laboratories
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Medical Genetics Test Details

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Retinitis Pigmentosa Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)
Test Information: Confirmation of Clinical Diagnosis, Carrier testing
Test Details
Test Code: 2190
Special Notes: 66 genes involved in Retinitis pigmentosa (RP) are analyzed by the newly developed and clinically validated approach of Massively Parallel Sequencing (MPS) using Next Generation sequence technology. These genes are tabulated below and sequencing of subsets of the MitomeNGS panel may be ordered using the individual test codes listed.

All exons of these 66 genes are examined by NGS. Exonic variants and intronic variants within 20bp of the exon/intron boundary will be reported. This massively parallel sequence analysis (BCM-MitomeNGSSM) will not detect genomic structural rearrangements (eg. deletions, duplications, and inversions), large insertion mutations (e.g. ALU mediated insertion), and mutations within the promoter or deep intronic regions. Mutations and novel variants are confirmed by Sanger sequencing.

Sequence analysis for each of the 66 genes responsible for RP by Massively Parallel Sequencing (BCM-MitomeNGSSM) can also be ordered separately:

ABCA4 (#6603), ABHD12 (#2410) , AIPL1 (#2430), BEST1 (#2920), C2orf71 (#2960), C8orf37 (#2420), CA4 (#2760), CDHR1 (#2385), CEP290 (#2415), CERKL (#2380), CLRN1 (#6660), CNGA1 (#2945), CNGB1 (#2940), CRB1 (#2845), CRX (#2950), DHDDS (#2965), EYS (#2970), FAM161A (#2990), FLVCR1 (#2485), FSCN2 (#2765), GUCA1B (#2775), GUCY2D (#2435), IDH3B (#2975), IMPDH1 (#2785), IMPG2 (#2450), KLHL7 (#2780), LCA5 (#2390), LRAT (#2835), MAK (#2495), MERTK (#2980), MFRP (#2405), NR2E3 (#2905), NRL (#2900), PDE6A (#2985), PDE6B (#2455), PDE6G (#2995), PRCD (#2465), PRKCG (#2895), PROM1 (#2395), PRPF3 (#2805), PRPF31 (#2795), PRPF6 (#2790), PRPF8 (#2800), PRPH2 (#2935), RBP3 (#2460), RD3 (#2830), RDH12 (#2955), RGR (#2475), RHO(OPN2) (#2915), RLBP1 (#2470), ROM1 (#2810), RP1 (#2910), RP2 (#2445), RP9 (#2820), RPE65 (#2930), RPGR (#2355), RPGRIP1 (#2350), SAG (#2480), SEMA4A (#2925), SNRNP200 (#2815), SPATA7 (#2850), TOPORS (#2890), TTC8 (#2400), TULP1 (#2840), USH2A (#6650), ZNF513 (#2490).

RP panel also contains genes where mutation can cause Leber Congenital Amaurosis (AIPL1, CEP290, CRB1, CRX, GUCY2D, LCA5, LRAT, RD3, RDH12, RPE65, RPGRIP1, SPATA7, and TULP1).
Technical Information
Methodology: Targeted Capture followed by Massively Parallel Sequencing
Gene Name: Please see "Test Details" section for a list of genes.
Sample & Shipping Information
Test Requisition: Inherited Eye Disorders
Specimen Type: Blood
Requirements: Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Specimen Type: Purified DNA
Requirements: Send at least 5ug of purified DNA (minimal concentration of 50ng/uL; A260/A280 of ~1.7).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Turn Around Time: 72 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81404x1, 81408x1, 81479x1


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