Clinical and research tests for C0026848 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 63

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
TXNRD2 Single Gene Fulgent Genetics United States	8	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PRDM16 Single Gene Fulgent Genetics United States	13	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PNPLA8 Single Gene Fulgent Genetics United States	23	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HACD1 Single Gene Fulgent Genetics United States	6	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HNRNPA2B1 Single Gene Fulgent Genetics United States	10	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HNRNPA1 Single Gene Fulgent Genetics United States	13	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
MTAP Single Gene Fulgent Genetics United States	22	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CASQ1 Single Gene Fulgent Genetics United States	7	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
COL12A1 Single Gene Fulgent Genetics United States	17	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
EPG5 Single Gene Fulgent Genetics United States	58	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
FHL2 Single Gene Fulgent Genetics United States	8	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
NARS2 Single Gene Fulgent Genetics United States	8	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
GMPPB Single Gene Fulgent Genetics United States	49	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
ACTG2 MGZ Medical Genetics Center Germany	2	1	C Sequence analysis of the entire coding region
GNE-Related Myopathy, GNE sequencing Molecular Diagnostics Laboratory Seoul National University Hospital South Korea	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) MGZ Medical Genetics Center Germany	6	90	C Sequence analysis of the entire coding region
Muscle Weakness (Myopathy, Muscular Dystrophy) MGZ Medical Genetics Center Germany	6	179	C Sequence analysis of the entire coding region
Muscle Disease with Distal Myopathy MGZ Medical Genetics Center Germany	6	28	C Sequence analysis of the entire coding region
Muscle Disease with Contractures and/or Rigid Spine MGZ Medical Genetics Center Germany	6	26	C Sequence analysis of the entire coding region
Newborn: “Floppy Infant “ MGZ Medical Genetics Center Germany	6	73	C Sequence analysis of the entire coding region

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Results: 21 to 40 of 63

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.