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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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Leber Congenital Amaurosis Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM)
Test Information: Confirmation of Clinical Diagnosis, Carrier testing
Test Details
Test Code: 5090
Special Notes: 19 genes involved in Leber Congenital Amaurosis (LCA) are analyzed by Massively Parallel Sequencing (MPS) using Next Generation Sequencing (NGS) technology. All exons of these 19 genes are examined. Exonic variants and inronic variants within 20 bp of the exon/intron boundary will be reported. The following genes are included in this panel and can also be ordered separately: AIPL1, CABP4, CEP290, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1.
Technical Information
Methodology: Targeted Capture followed by Massively Parallel Sequencing
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: 56 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81479 x 19


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