Medical Genetics Test Details
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Leber Congenital Amaurosis Panel by Massively Parallel Sequencing (BCM-MitomeNGSSM) | ||
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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 intronic 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 | ||
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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. |
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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: | 28 days | |
Billing Information | ||
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List Price: | *For Insurance or Institutional Prices, please call. | |
CPT Codes: | 81404x1, 81406x2, 81408x1, 81479x1 |