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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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Osteogenesis Imperfecta - LEPRE1 Related tests available.

Osteogenesis Imperfecta Type II | Osteogenesis Imperfecta Type III | Osteogenesis Imperfecta Type VIII | LEPRE1-Related Osteogenesis Imperfecta

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Sequence Analysis LEPRE1 Sequence Analysis
Test Code: 6325
LEPRE1 Sequence Analysis
Test Code: 6330

This test can only be performed if there is a previously identified familial mutation.
LEPRE1 Sequence Analysis
Test Code: 6335

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.

LEPRE1 Sequence Analysis
Test Information: Confirmation of Clinical Diagnosis, Carrier Testing
Test Details
Test Code: 6325
Test Includes: Sequencing of the entire LEPRE-1 coding region. In addition, alternatively spliced exons 14 and 15 of the second isoform (14iso2 and 15iso2), Ensembl ID: ENST00000296388 will also be analysed.

Special Notes: If the mutation to be tested in this individual is one previously identified in an affected family member, please order test (#6330). Please see detailed requirements under this test code.
Technical Information
Methodology: Sequence analysis is performed in both forward and reverse directions
Gene Name: LEPRE1
Protein Name: Prolyl 3-hydroxylase 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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