Clinical and research tests for 604367 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Insulin resistance, severe, digenic, 604367, Autosomal dominant (PPARG-related familial partial lipodystrophy) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Insulin resistance, severe, digenic, 604367, Autosomal dominant (PPARG-related familial partial lipodystrophy) (PPARG 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
Lipodystrophy, familial partial, type 3, 604367, Autosomal dominant; FPLD3 (PPARG-related familial partial lipodystrophy) (PPARG 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
Lipodystrophy, familial partial, type 3, 604367, Autosomal dominant; FPLD3 (PPARG-related familial partial lipodystrophy) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
CDK4 Gene Melanoma, cutaneous malignant, familial, CDK4 related NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Lipodystrophy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	23	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Infertility Panel Centogene AG - the Rare Disease Company Germany	243	238	D Deletion/duplication analysis E Sequence analysis of select exons C Sequence analysis of the entire coding region T Targeted variant analysis
PPARG - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoIEM Panel Centogene AG - the Rare Disease Company Germany	669	688	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Panel Centogene AG - the Rare Disease Company Germany	498	498	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoNephro Plus Panel Centogene AG - the Rare Disease Company Germany	499	499	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Diabetes and Obesity Panel Centogene AG - the Rare Disease Company Germany	247	262	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Monogenic Obesity Panel Labcorp Genetics (formerly Invitae) LabCorp United States	92	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Monogenic Diabetes Panel Labcorp Genetics (formerly Invitae) LabCorp United States	59	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypercholesterolemia panel Genetic Services Laboratory University of Chicago United States	15	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Dyslipidemia panel Genetic Services Laboratory University of Chicago United States	17	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Lipodystrophy Panel PreventionGenetics, part of Exact Sciences United States	57	29	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Familial Partial Lipodystrophy (FPLD) Panel PreventionGenetics, part of Exact Sciences United States	29	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis

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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.