Clinical and research tests for 601601 - Genetic Testing Registry (GTR) - NCBI

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

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 35

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
TFAP2B Gene Char syndrome NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Congenital Heart Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	22	44	D Deletion/duplication analysis C Sequence analysis of the entire coding region
TFAP2B - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	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
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Char syndrome, 169100, Autosomal dominant; CHAR (Char syndrome) (TFAP2B 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
Char syndrome, 169100, Autosomal dominant; CHAR (Char syndrome) (TFAP2B 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
Patent ductus arteriosus 2, 617035, Autosomal dominant; PDA2 (Familial patent arterial duct) (TFAP2B 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
Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	220	128	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain	3	1969	S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Invitae Ectodermal Dysplasia and Related Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	148	73	D Deletion/duplication analysis
Invitae Congenital Heart Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	107	55	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Char Syndrome via the TFAP2B Gene PreventionGenetics, part of Exact Sciences United States	1	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Intellectual Disability Panel CGC Genetics Unilabs Portugal	1	1307	C Sequence analysis of the entire coding region
Limb reduction defects (WES based NGS panel of 141 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	141	C Sequence analysis of the entire coding region
Congenital Heart Defects Panel CGC Genetics Unilabs Portugal	1	208	C Sequence analysis of the entire coding region
Bone diseases panel_v.2.0 CGC Genetics Unilabs Portugal	1	662	C Sequence analysis of the entire coding region
Char syndrome (sequence analysis of TFAP2B gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Congenital structural heart disease panel. NGS panel of 62 genes. Genologica Medica Spain	113	62	C Sequence analysis of the entire coding region

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 35

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.