Clinical and research tests for C4551968 - Genetic Testing Registry (GTR) - NCBI

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

<< First< Prev

Page 1 of 5

Results: 1 to 20 of 81

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
qChip 1M Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
qChip 60k post-natal Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
qChip 400 Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication 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
qChip 60k prenatal Quantitative Genomic Medicine Laboratories, SL Spain	184	162	D Deletion/duplication analysis
DCX - 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
Epilepsy Panel Centogene AG - the Rare Disease Company Germany	734	744	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Intellectual Disability Panel Centogene AG - the Rare Disease Company Germany	777	770	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 Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	971	680	D Deletion/duplication analysis
Invitae Brain Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States	247	161	D Deletion/duplication analysis
Lissencephaly Panel PreventionGenetics, part of Exact Sciences United States	29	28	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Lissencephaly, X-linked, 300067, X-linked; LISX1 (Lissencephaly type 1 due to doublecortin gene mutation) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Lissencephaly, X-linked, 300067, X-linked; LISX1 (Lissencephaly type 1 due to doublecortin gene mutation) (DCX 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
Lissencephaly, X-linked, 300067, X-linked; LISX1 (Lissencephaly type 1 due to doublecortin gene mutation) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Lissencephaly, X-linked, 300067, X-linked; LISX1 (Lissencephaly type 1 due to doublecortin gene mutation) (DCX 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
Subcortical laminal heteropia, X-linked, 300067, X-linked (Subcortical band heterotopia) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Subcortical laminal heteropia, X-linked, 300067, X-linked (Subcortical band heterotopia) (DCX 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

<< First< Prev

Page 1 of 5

Results: 1 to 20 of 81

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.