Clinical and research tests for 300831 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
CK syndrome, 300831, X-linked recessive (CK syndrome) (NSDHL 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
CK syndrome, 300831, X-linked recessive (CK syndrome) (NSDHL 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
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
NSDHL - 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
Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	624	349	D Deletion/duplication analysis
Invitae Limb and Digital Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States	356	177	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Sterol Disorders Panel PreventionGenetics, part of Exact Sciences United States	18	12	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Progressive Renal Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States	310	195	D Deletion/duplication analysis
X-Linked Intellectual Disability Panel PreventionGenetics, part of Exact Sciences United States	191	141	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
NSDHL-Related Disorders via the NSDHL Gene PreventionGenetics, part of Exact Sciences United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States	240	171	D Deletion/duplication analysis
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	C Sequence analysis of the entire coding region
CK syndrome (sequence analysis of NSDHL gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Limb malformation panel. NGS panel of 45 genes. Genologica Medica Spain	77	45	C Sequence analysis of the entire coding region
Polymicrogyria panel. 17-gene NGS panel. Genologica Medica Spain	22	17	C Sequence analysis of the entire coding region
X-linked intellectual disability panel. 99-gene NGS panel. Genologica Medica Spain	143	99	C Sequence analysis of the entire coding region
Chondrodysplasia punctata panel. 9-gene NGS panel. Genologica Medica Spain	14	9	C Sequence analysis of the entire coding region
Neuronal migration disorder panel. NGS panel of 58 genes. Genologica Medica Spain	110	57	C Sequence analysis of the entire coding region
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain	373	169	C Sequence analysis of the entire coding region
CK syndrome: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region

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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.