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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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OSTM1-Related Autosomal Recessive Osteopetrosis tests available.

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Deletion/Duplication Analysis OSTM1 Deletion/Duplication Analysis
Test Code: 2608
Sequence & Deletion/Duplication Analysis OSTM1 Comprehensive - Sequence & Deletion/Duplication Analysis
Test Code: 2609
Sequence Analysis OSTM1 Sequence Analysis
Test Code: 2605
OSTM1 Sequence Analysis
Test Code: 2606

This test can only be performed if there is a previously identified familial mutation.
OSTM1 Sequence Analysis
Test Code: 2607

We require that the referring center consult with our laboratory genetic counselors regarding prenatal cases prior to submitting any samples. Please call 1-800-411-4363.


OSTM1 Sequence Analysis
(Familial Mutation/Variant Analysis)
Test Information: Confirmation of Clinical Diagnosis - Known Familial Mutation(s), Carrier Testing - Known Familial Mutation(s)
Test Details
Test Code: 2606
Special Notes: This test can only be performed if there is a previously identified familial mutation. A laboratory report containing the relative's mutation information, the specific biological relationship of this patient and the tested relative and the clinical status of this patient (symptomatic or asymptomatic) must be submitted with the specimen. If the original familial mutation was identified in another laboratory, this testing must be discussed with one of our genetic counselors prior to sending a specimen.
Technical Information
Methodology: Sequencing analysis of the region(s) containing the familial alteration(s) is performed in the forward and reverse directions.
Gene Name: OSTM1
Protein Name: Osteopetrosis-associated transmembrane protein 1 precursor  
Test Type: Sequence Analysis
Sample & Shipping Information
Test Requisition: Molecular Diagnostics
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: 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: 21 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81479x1


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