U.S. flag

An official website of the United States government

GTR Home > Tests > Pulmonary Panel

Overview

Test name

Help

Pulmonary Panel

Purpose of the test

Help

This is a clinical test intended for Help: Diagnosis

Condition

Help

Loading data ......

Click Indication tab for more information.

How to order

Help

Order URL Help: https://www.centogene.com/diagnostics/how-to-order

Specimen source

Buccal swab
Cell culture
Peripheral (whole) blood
Product of conception (POC)
Chorionic villi
Isolated DNA
Dried blood spot (DBS) card
Saliva
Fetal blood
Fibroblasts
Bone marrow
Amniotic fluid

Methodology

Help
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)
TTargeted variant analysis
Trinucleotide repeat by PCR or Southern Blot of PHOX2B

Summary of what is tested

Loading data ......

Click Methodology tab for more information.

Clinical utility

Help

Not provided

Clinical validity

Help

This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk family members, provide reproductive risks as well as preconception/prenatal options, and allow for appropriate referral for patient support and/or resources.

Citations

Not provided

Test services

Help
  • Custom Sequence Analysis
  • Result interpretation
  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom Deletion/Duplication Testing
  • Custom mutation-specific/Carrier testing

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.