Clinical and research tests for 11277 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 168

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Invitae Cerebral Palsy Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	638	419	D Deletion/duplication analysis
Chilblain lupus, 610448, Autosomal dominant; CHBL1 (Chilblain lupus) (TREX1 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
Chilblain lupus, 610448, Autosomal dominant; CHBL1 (Chilblain lupus) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Systemic lupus erythematosus, susceptibility to, 152700, Autosomal dominant (Chilblain lupus) (TREX1 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
Vasculopathy, retinal, with cerebral leukodystrophy, 192315, Autosomal dominant; RVCL (Retinal vasculopathy and cerebral leukoencephalopathy) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Vasculopathy, retinal, with cerebral leukodystrophy, 192315, Autosomal dominant; RVCL (Retinal vasculopathy and cerebral leukoencephalopathy) (TREX1 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
Vasculopathy, retinal, with cerebral leukodystrophy, 192315, Autosomal dominant; RVCL (Retinal vasculopathy and cerebral leukoencephalopathy) (TREX1 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
Vasculopathy, retinal, with cerebral leukodystrophy, 192315, Autosomal dominant; RVCL (Retinal vasculopathy and cerebral leukoencephalopathy) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Systemic lupus erythematosus, susceptibility to, 152700, Autosomal dominant (Chilblain lupus) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Aicardi-Goutieres syndrome 1, dominant and recessive, 225750, Autosomal recessive, Autosomal dominant; AGS1 (Aicardi-Goutières syndrome) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Aicardi-Goutieres syndrome 1, dominant and recessive, 225750, Autosomal recessive, Autosomal dominant; AGS1 (Aicardi-Goutières syndrome) (TREX1 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
Aicardi-Goutieres syndrome 1, dominant and recessive, 225750, Autosomal recessive, Autosomal dominant; AGS1 (Aicardi-Goutières syndrome) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Aicardi-Goutieres syndrome 1, dominant and recessive, 225750, Autosomal recessive, Autosomal dominant; AGS1 (Aicardi-Goutières syndrome) (TREX1 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
Cerebral Small Vessel Disease Panel PreventionGenetics, part of Exact Sciences United States	13	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Whole Exome Sequencing for Hemiplegic Migraine, Epilepsy, Ataxia, CADASIL/Small Vessel Disease Genomics Research Centre Diagnostics Clinic Queensland Unstitute of Technology Australia	14	10	C Sequence analysis of the entire coding region
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
Leukodystrophy and Leukoencephalopathy, Adult Onset Panel PreventionGenetics, part of Exact Sciences United States	46	37	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Labcorp Genetics (formerly Invitae) LabCorp United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Inherited Retinal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	486	293	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States	886	547	D Deletion/duplication analysis 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.