Clinical and research tests for 130000 - Genetic Testing Registry (GTR) - NCBI

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

<< First< Prev

Page 1 of 8

Results: 1 to 20 of 143

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Ehlers-Danlos syndrome, classic, 130000, Autosomal dominant (Ehlers-Danlos syndrome, classic type) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Ehlers-Danlos syndrome, classic type, 130000, Autosomal dominant (Ehlers-Danlos syndrome, classic type) (COL5A2 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
Ehlers-Danlos syndrome, classic type, 130000, Autosomal dominant (Ehlers-Danlos syndrome, classic type) (COL5A1 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
Ehlers-Danlos syndrome, classic type, 130000, Autosomal dominant (Ehlers-Danlos syndrome, classic type) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Ehlers-Danlos syndrome, classic, 130000, Autosomal dominant (Ehlers-Danlos syndrome, classic type) (COL1A1 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
Cardiology Sequencing- Aortopathy Comprehensive Panel (24 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	17	24	X Mutation scanning of select exons
Cardiology Sequencing- Full Panel (174 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States	122	174	X Mutation scanning of select exons
Comprehensive Aortopathy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	54	48	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Ehlers-Danlos Syndrome Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	28	22	D Deletion/duplication analysis C Sequence analysis of the entire coding region
OI and Bone Fragility Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	31	25	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Marfan and Related Conditions Panel Mayo Clinic Laboratories Mayo Clinic United States	37	30	D Deletion/duplication analysis S Mutation scanning of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
COL5A1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Connective Tissue and Related Disorder Panel Centogene AG - the Rare Disease Company Germany	75	76	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoCardio Panel Centogene AG - the Rare Disease Company Germany	289	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoDysmorph Panel Centogene AG - the Rare Disease Company Germany	740	728	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Connective Tissue Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	195	92	D Deletion/duplication analysis
Early-Onset High Myopia Panel PreventionGenetics, part of Exact Sciences United States	285	137	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Corneal Dystrophies Panel Labcorp Genetics (formerly Invitae) LabCorp United States	65	33	D Deletion/duplication analysis
Ehlers-Danlos syndrome, classic type Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region

<< First< Prev

Page 1 of 8

Results: 1 to 20 of 143

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.