Clinical and research tests for C0221032 - Genetic Testing Registry (GTR)

Results: 1 to 17 of 17

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Lipodystrophy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	23	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Targeted Variant Analysis Integrated Genetics Westborough LabCorp United States	330	746	T Targeted variant analysis
Targeted Variant, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	746	T Targeted variant analysis
GeneSeq PLUS Integrated Genetics Westborough LabCorp United States	330	746	C Sequence analysis of the entire coding region
GeneSeq PLUS, Fetal Analysis Integrated Genetics Westborough LabCorp United States	292	597	C Sequence analysis of the entire coding region
Partner Reflex to GeneSeq Integrated Genetics Westborough LabCorp United States	330	746	C Sequence analysis of the entire coding region
Inheritest 500 PLUS Panel Integrated Genetics Westborough LabCorp United States	287	578	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region
Berardinelli-Seip Congenital Lipodystrophy: gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	2	C Sequence analysis of the entire coding region
Congenital and Familial Lipodystrophy Panel Blueprint Genetics Finland	2	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Metabolism Panel Blueprint Genetics Finland	14	434	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Progeria and Progeroid Syndromes Panel Blueprint Genetics Finland	4	17	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LRRN4CL Single Gene Fulgent Genetics United States	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Spinal Muscular Atrophy (SMA) Panel CeGaT GmbH Germany	44	27	C Sequence analysis of the entire coding region
Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel CeGaT GmbH Germany	147	143	C Sequence analysis of the entire coding region
Congenital Generalized Lipodystrophy Sequential Panel FirmaLab United States	1	2	C Sequence analysis of the entire coding region
BSCL2-Related Neurologic Disorders/Seipinopathy MGZ Medical Genetics Center Germany	3	1	C Sequence analysis of the entire coding region
Berardinelli-Seip Congenital Lipodystrophy Lipodystrophy Laboratory University of Texas Southwestern Medical Center - Dallas United States	1	2	S Mutation scanning of the entire coding region

Results: 1 to 17 of 17

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.

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Results: 1 to 17 of 17

Results: 1 to 17 of 17