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GTR Home > Tests > CYP21A2 gene Sequencing

Overview

Test order codeHelp: 003013

Test name

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CYP21A2 gene Sequencing

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation, Pre-implantation genetic diagnosis, Risk Assessment

Condition

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Click Indication tab for more information.

How to order

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Please send the requisition form and informed consent.
Order URL Help: http://www.genetix.com.co/

Specimen source

Amniocytes
Amniotic fluid
Bone marrow
Cell culture
Chorionic villi
Cord blood
Cystic hygroma fluid
Fetal blood
Fibroblasts
Fresh tissue
Isolated DNA
Peripheral (whole) blood
Product of conception (POC)
Skin
Urine
White blood cell prep
Specimen requirements: http://www.genetix.com.co/

Methodology

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Molecular Genetics
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
  • ABI3700XL

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Clinical validity

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Not provided

Testing strategy

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PCR and bidirectional sequencing. 000 Please send the requisition form and informed consent.

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Sequence Analysis
  • Genetic counseling
  • Preimplantation Genetic Diagnosis (PGD)
  • Result interpretation
  • Custom Prenatal Testing
  • Custom mutation-specific/Carrier testing

Practice guidelines

  • ACMG ACT, 2018
    American College of Medical Genetics ACT SHEET, Transition to Adult Health Care ACT Sheet, Congenital Adrenal Hyperplasia (CAH)
  • ACMG Algorithm, 2009
    American College of Medical Genetics and Genomics, Algorithm, Congenital Adrenal Hyperplasia (Elevated 17-OHP), 2009

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.