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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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Custom Proband Sequence Analysis
(Familial Mutation/Variant Analysis)
Test Information: Confirmation of Clinical Diagnosis - Known Mutation(s), Presymptomatic Testing - Known Mutation(s)
Test Details
Test Code: 1560
Test Includes: Sequencing of the region(s) containing the familial alteration(s)

Special Notes: Confirmation of TARGETED mutation(s) and/or Variants of Unclear Clinical Significance (VUS) testing:
• Confirmation of test results that has not previously been completed in a CLIA/CAP lab (such as research lab results)
• Confirmation of proband's Whole Exome Sequencing (WES) results.
These test codes should only be used for confirmation of genes which the BCM-MGL does not provide a separate specific test code. Records from the lab that identified the sequence change that is being requested MUST accompany the requisition.

For Autosomal Dominant, Homozygous or X-linked Targeted Gene Testing: Use test codes 1560-1569 for requests when confirmation of only ONE sequence change is being requested for that gene. Complete one test code request for EACH gene.
For Autosomal Recessive Targeted Gene Testing: Use test codes 1570-1579 for requests when confirmation of TWO sequence changes are being requested for that gene. Complete one test code for EACH gene that TWO sequence changes are being confirmed.
Technical Information
Methodology: Sequencing analysis of the region(s) containing the targeted alteration(s) is performed in the forward and reverse directions
Gene Name: Multiple
Protein Name: Multiple
Test Type: Sequence Analysis
Sample & Shipping Information
Test Requisition: Custom Proband Sequencing
Specimen Type: Blood
Requirements: Draw blood in an EDTA (purple-top) tube(s) and send 3-5 cc (Adults/Children) and 3 cc (Infant<2yrs (adults).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Specimen Type: Saliva
Requirements: Collected with Oragene DNA Self-Collection Kit (provided by MGL with instruction).
Shipping Conditions: Ship at room temperature in an insulated container by overnight courier. Do not heat or freeze.

Turn Around Time: 6 weeks
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81479x1


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