Clinical and research tests for 604214 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Inheritest CF / SMA Panel Integrated Genetics Westborough LabCorp United States	2	2	D Deletion/duplication analysis C Sequence analysis of the entire coding region
KRIT1 Gene Cerebral cavernous malformations type 1 NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
HHT and Vascular Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	7	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cerebrovascular Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	23	30	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Comprehensive Epilepsy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	318	D Deletion/duplication analysis S Mutation scanning of the entire coding region T Targeted variant analysis
High-Resolution Rapid Microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
Rapid microarray (CGH and SNP) Allele Diagnostics United States	247	231	D Deletion/duplication analysis H Detection of homozygosity
KRIT1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	1	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
Blood Coagulation Panel Centogene AG - the Rare Disease Company Germany	110	112	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
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 Brain Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States	247	161	D Deletion/duplication analysis
Cerebral cavernous malformations Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cerebral cavernous malformations Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	3	3	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cerebral cavernous malformations NGS panel HNL Genomics Connective Tissue Gene Tests United States	3	3	C Sequence analysis of the entire coding region T Targeted variant analysis
Cerebral cavernous malformations-1, 116860, Autosomal dominant (Familial cerebral cavernous malformation) (KRIT1 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
Cavernous malformations of CNS and retina, 116860, Autosomal dominant (Familial cerebral cavernous malformation) (KRIT1 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
Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860, Autosomal dominant (Familial cerebral cavernous malformation) (KRIT1 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
Vascular malformations Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States	20	19	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.