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GTR Home > Tests > Neuromuscular Panel


Test name


Neuromuscular Panel

Purpose of the test


This is a clinical test intended for Help: Diagnosis



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Click Indication tab for more information.

How to order


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

Specimen source

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


Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
XMutation scanning of select exons
Exon 7 deletion screening of SMN1
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 DMPK

Summary of what is tested

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Click Methodology tab for more information.

Clinical utility


Not provided

Clinical validity


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.


Not provided

Test services

  • mt-DNA Analysis
  • Custom Deletion/Duplication Testing
  • Custom Sequence Analysis
  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Result interpretation
  • 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.