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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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Ehlers-Danlos Syndrome, Kyphoscoliotic Form - PLOD1 Related tests available.

EDS Kyphoscoliotic Form | EDS Type VI | Ehlers-Danlos Syndrome Type VI | Lysyl-Hydroxylase Deficiency | Nevo Syndrome | Ehlers-Danlos Syndrome Type VIA

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Diagnostic Testing Familial Mutation/Variant Analysis Mutation Testing General Population Prenatal Diagnosis Presymptomatic Testing
Sequence Analysis PLOD1 Sequence Analysis
Test Code: 6575 		PLOD1 Sequence Analysis
Test Code: 6576

This test can only be performed if there is a previously identified familial mutation.
PLOD1 Sequence Analysis
Test Code: 6577

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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PLOD1 Sequence Analysis
Test Information: Confirmation of Clinical Diagnosis, Carrier Testing
Test Details
Test Code: 6575
Test Includes: Sequence analysis also detects the common duplication mutation involving exons 10 through 16.

Special Notes: If the mutation to be tested in this individual is one previous identified in an affected family member, please order test (#6576). Please see detailed requirements under this test code.
Technical Information
Methodology: Sequence analysis is performed in both forward and reverse directions
Gene Name: PLOD1
Protein Name: Procollagen-lysine,2-oxoglutarate 5-dioxygenase 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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