Clinical and research tests for C0033300 - Genetic Testing Registry (GTR) - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

<< First< Prev

Page 1 of 6

Results: 1 to 20 of 104

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
Invitae Expanded Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	693	388	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae eMERGE Panel Labcorp Genetics (formerly Invitae) LabCorp United States	59	16	D Deletion/duplication analysis C Sequence analysis of the entire coding region
LMNA - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	11	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae eMERGE Panel Labcorp Genetics (formerly Invitae) LabCorp United States	59	16	D Deletion/duplication analysis
Invitae Hypogonadotropic Hypogonadism Panel Labcorp Genetics (formerly Invitae) LabCorp United States	67	46	D Deletion/duplication analysis
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	346	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
LowBoneDensityZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	110	50	C Sequence analysis of the entire coding region
Hutchinson-Gilford progeria, 176670, Autosomal recessive, Autosomal dominant; HGPS (Hutchinson-Gilford progeria syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hutchinson-Gilford progeria, 176670, Autosomal recessive, Autosomal dominant; HGPS (Hutchinson-Gilford progeria syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Hutchinson-Gilford progeria, 176670, Autosomal recessive, Autosomal dominant; HGPS (Hutchinson-Gilford progeria syndrome) (LMNA 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
Hutchinson-Gilford progeria, 176670, Autosomal recessive, Autosomal dominant; HGPS (Hutchinson-Gilford progeria syndrome) (LMNA 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 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
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	480	254	C Sequence analysis of the entire coding region
Invitae Genetic Health Screen Labcorp Genetics (formerly Invitae) LabCorp United States	409	164	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cardio Screen Labcorp Genetics (formerly Invitae) LabCorp United States	208	81	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae 78 Gene Actionable Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	220	75	D Deletion/duplication analysis C Sequence analysis of the entire coding region
RenalZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	525	338	C Sequence analysis of the entire coding region

<< First< Prev

Page 1 of 6

Results: 1 to 20 of 104

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.