Clinical and research tests for PPM1K - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
PPM1K Gene Maple syrup urine disease, mild variant NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis Variantyx, Inc. United States	1	335	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
PPM1K - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	351	249	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Maple Syrup Urine Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Maple syrup urine disease, mild variant, 615135; MSUDMV (Maple syrup urine disease) (PPM1K gene) (Sequence Analysis-All Coding Exons) (Prenatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
Maple syrup urine disease, mild variant, 615135; MSUDMV (Maple syrup urine disease) (PPM1K gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	C Sequence analysis of the entire coding region
WES metabolic disorders Translational Metabolic Laboratory Radboud University Medical Centre Netherlands	1	625	E Sequence analysis of select exons
Invitae Treatable Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	257	191	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Metabolic Newborn Screening Confirmation Panel Labcorp Genetics (formerly Invitae) LabCorp United States	222	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Elevated Leucine (MSUD) Panel Labcorp Genetics (formerly Invitae) LabCorp United States	4	6	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Organic Acidemias Panel Labcorp Genetics (formerly Invitae) LabCorp United States	118	98	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	1202	E Sequence analysis of select exons
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain	1	1372	E Sequence analysis of select exons
Inherited Metabolic Disorders Panel Dhiti Omics Technologies Private Ltd India	376	317	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Autism/ID Xpanded Panel GeneDx United States	2	2592	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ataxia Xpanded Panel GeneDx United States	1	999	D Deletion/duplication analysis C Sequence analysis of the entire coding region
EpiXpanded Panel GeneDx United States	1	1501	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Maple syrup urine disease: Extended Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	5	5	C Sequence analysis of the entire coding region

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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.