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Genetic Labs

Houston, Texas

Genetic Laboratory
Baylor Miraca Genetics Laboratories
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Medical Genetics Test Details

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RRM2B - Related Disorders (RRM2B, p53R2) tests available.

RRM2B-Related Mitochondrial DNA Depletion Syndrome Encephalomyopathic Form with Renal Tubulopathy | RRM2B - Related Encephalomyopathic mtDNA Depletion Syndrome

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Deletion/Duplication Analysis RRM2B Deletion/Duplication Analysis
Test Code: 3423
Sequence & Deletion/Duplication Analysis RRM2B Comprehensive - Sequence & Deletion/Duplication Analysis
Test Code: 3424
Sequence Analysis RRM2B Sequence Analysis
Test Code: 3420
RRM2B Sequence Analysis
Test Code: 3421

This test can only be performed if there is a previously identified familial mutation.
RRM2B Sequence Analysis
Test Code: 3422

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.

RRM2B Sequence Analysis
Test Information: Confirmation of Clinical Diagnosis
Test Details
Test Code: 3420
Special Notes: If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#3421). Please see detailed requirements under this test code.

RRM2B is included in the mtDNA Depletion/Integrity Panel (MitomeNGS) (#2130).
Technical Information
Methodology: Sequence analysis is performed in both forward and reverse directions
Gene Name: RRM2B (p53R2)
Protein Name: Ribonucleoside-diphosphate reductase subunit M2 B
Test Type: Sequence Analysis
Sample & Shipping Information
Test Requisition: Mitochondrial
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).
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: 28 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81405x1

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