Test Catalog

Test ID: MSUDP    
Maple Syrup Urine Disease Gene Panel, Varies

Useful For Suggests clinical disorders or settings where the test may be helpful

Follow up for abnormal biochemical results suggestive of maple syrup urine disease (MSUD)


Establishing a molecular diagnosis for patients with MSUD


Identifying variants within genes known to be associated with MSUD, allowing for predictive testing of at-risk family members

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 6 genes associated with maple syrup urine disease: BCKDHA, BCKDHB, BCKDK, DBT, DLD, PPM1K. See Method Description for additional details.


Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for maple syrup urine disease.


Additional first tier testing may be considered/recommended. For more information see Advisory Information.

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing.

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

MSUD Gene Panel

Aliases Lists additional common names for a test, as an aid in searching

NextGen Sequencing Test
Maple syrup urine disease (MSUD)
Branched chain ketoaciduria
BCKD deficiency
Branched chain alpha keto acid dehydrogenase deficiency
Keto acid decarboxylase deficiency