GTR Home > Tests > Chondrodysplasia Punctata Panel

Overview

Test order codeHelp: MA2701

Test name

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Chondrodysplasia Punctata Panel

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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1 condition tested. Click Indication tab for more information.

Methodology

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

Summary of what is tested

9 genes and variants. Click Methodology tab for more information.

Genes

Clinical validity

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Not provided

Clinical utility

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Not provided

How to order

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Choose the preferred way to order: 1) Online ordering: place the order in Nucleus. 2) PDF ordering: download a form, fill in and mail. 3) Sample kit: use Blueprint Kit with sample tube, requisition form and prepaid return.
Order URL Help: http://blueprintgenetics.com/order/how-to-order/

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously

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.

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