Clinical and research tests for 4047 - Genetic Testing Registry (GTR) - NCBI

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Results: 1 to 20 of 21

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
LSS - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	3	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoVision Panel Centogene AG - the Rare Disease Company Germany	417	413	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cataract 44, 616509, Autosomal recessive; CTRCT44 (Early-onset non-syndromic cataract) (LSS 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
Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States	272	278	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cataract Amplexa Genetics Amplexa Genetics A/S Denmark	1	47	S Mutation scanning of the entire coding region
Epilepsy - Intellectual Disability - Autism Spectrum Disorder Amplexa Genetics Amplexa Genetics A/S Denmark	1	600	S Mutation scanning of the entire coding region
Invitae Ectodermal Dysplasia and Related Disorders Panel Invitae United States	148	73	D Deletion/duplication analysis
LSS Institute for Human Genetics University Medical Center Freiburg Germany	3	1	C Sequence analysis of the entire coding region
Cataract Panel CGC Genetics Unilabs Portugal	1	118	C Sequence analysis of the entire coding region
Dermatology Panel CGC Genetics Unilabs Portugal	1	277	C Sequence analysis of the entire coding region
Genomic Unity® Custom Analysis Variantyx, Inc. United States	1	4054	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Prenatal Known Familial Mutation GeneDx United States	1	1716	D Deletion/duplication analysis T Targeted variant analysis
Custom XomeDxSlice (2-150 Genes, Proband Only) GeneDx United States	1	1718	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cataract Panel GeneDx United States	1	85	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hypotrichosis: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	13	11	C Sequence analysis of the entire coding region
Cataract: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	38	37	C Sequence analysis of the entire coding region
Congenital Cataracts NGS Panel Fulgent Genetics United States	106	56	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cataract Asper Biogene Asper Biogene LLC Estonia	45	44	C Sequence analysis of the entire coding region
LSS Single Gene Fulgent Genetics United States	2	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cataract Panel CeGaT GmbH Germany	24	41	C Sequence analysis of the entire coding region

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Results: 1 to 20 of 21

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.