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GTR Home > Tests > Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia NGS Panel

Overview

Test order codeHelp: FT-TP00420

Test name

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Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia NGS Panel

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Condition

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How to order

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Order URL Help: https://fulgentgenetics.com/Asphyxiating-Thoracic-Dysplasia

Specimen source

Buccal swab
Cell culture
Cord blood
Fetal blood
Fibroblasts
Fresh tissue
Frozen tissue
Isolated DNA
Peripheral (whole) blood
Saliva

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

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Clinical utility

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Not provided

Clinical validity

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Not provided

Clinical resources

Practice guidelines

  • AAP, 2013
    Ethical and Policy Issues in Genetic Testing and Screening of Children, Pediatrics (2013) 131 (3): 620–622.

Consumer resources

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.