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Genetic Labs

Houston, Texas

Genetic Laboratory
Baylor Genetics Laboratories
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Medical Genetics Test Details

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Lowe Syndrome tests available.

Oculocerebrorenal Syndrome | Oculocerebrorenal Syndrome of Lowe | Dent Disease | Low-Molecular Weight Proteinuria with Nephrocalcinosis | X-Linked Recessive Hypophosphatemic Rickets +/-Hypercalciuria | X-Linked Recessive Nephrolithiasis | OCRL-Related Dent Disease | Dent Disease 2

(Click the blue dot to view test details. Red dot = current test.)
Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Enzyme Analysis Phosphatidylinositol Bisphosphate Phosphatase Enzyme Analysis
Test Code: 4585

This test can only be performed on Skin Fibroblasts.
Sequence Analysis OCRL Sequence Analysis
Test Code: 6039
OCRL Sequence Analysis
Test Code: 6102

This test can only be performed if there is a previously identified familial mutation.
OCRL Sequence Analysis
Test Code: 6101

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.

OCRL Sequence Analysis
Test Information: Confirmation of Clinical Diagnosis, Carrier Risk Assessment - Positive Family History (no familial mutation known)
Test Details
Test Code: 6039
Special Notes: If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#6102). Please see detailed requirements under this test code.

Please view our Recommended Flowchart for Lowe Syndrome Diagnostic Testing.
Technical Information
Methodology: Sequence analysis is performed in both forward and reverse directions
Gene Name: OCRL
Protein Name: Phosphatidylinositol polyphosphate 5-phosphatase OCRL-1
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) and 3 cc (Infant<2yrs).
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: 81479x1

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