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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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CFTR-Related Disorders Mutation Panel tests available.

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Deletion/Duplication Analysis CFTR Deletion/Duplication Analysis
Test Code: 6373
CFTR Deletion/Duplication Analysis
Test Code: 6373
Mutation Analysis CFTR-Related Disorders Mutation Panel
Test Code: 7600
CFTR-Related Disorders Mutation Panel
Test Code: 7600
CFTR-Related Disorders Mutation Panel
Test Code: 7601
Sequence & Deletion/Duplication Analysis CFTR Comprehensive - Sequence & Deletion/Duplication Analysis
Test Code: 6376
Sequence Analysis CFTR Sequence Analysis
Test Code: 6370
CFTR Sequence Analysis
Test Code: 6371

This test can only be performed if there is a previously identified familial mutation.
CFTR Sequence Analysis
Test Code: 6372

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.


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CFTR-Related Disorders Mutation Panel
(Prenatal Diagnosis)
Test Information: Prenatal Diagnosis - Known Familial Mutation(s)
Test Details
Test Code: 7601
Special Notes: 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.

References:
Genetics Home Reference - Cystic Fibrosis
Genetics Home Reference - Congenital Bilateral Absence of the Vas Deferens
Technical Information
Methodology: Extracted genomic DNA from test samples is amplified and hybridized to both normal and mutant fluorescent probes targeting the 89 mutation regions. Results are analyzed using quantitative imaging methods and analytical software to assist in determining if a given mutation is detected in the test sample. This analysis differentiates between the delF508 and the delI507 mutations as well as polymorphisms in this region.
Gene Name: CFTR
Protein Name: Cystic fibrosis transmembrane conductance regulator
Test Type: Mutation Analysis
Sample & Shipping Information
Test Requisition: Prenatal Comprehensive
Specimen Type: Blood (Maternal)
Requirements: Draw blood in an EDTA (purple-top) tube and send 3-5 cc.
Shipping Conditions: Ship at ambient temperature by overnight courier.

Specimen Type: Cultured Cellls (Amniotic or CV)
Requirements: Send two T25 flasks at 80% confluence.
Shipping Conditions: Ship at ambient temperature in an insulated container by overnight courier.

Specimen Type: Direct Amniotic Fluid
Requirements: Ship 10 cc of unspun Amniotic Fluid.
Shipping Conditions: Ship at room temperature by overnight carrier. Specimen should arrive in the laboratory within 48 hours

Specimen Type: Direct chorionic villus
Requirements: 10 mg shipped in sterile transport media.
Shipping Conditions: Ship at room temperature by overnight carrier. Specimen should arrive in the laboratory within 48 hours

Turn Around Time: 21 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81221x1, 81265x1, 81266x1


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