Clinical and research tests for 10846 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
PDE10A Gene Dyskinesia, limb and orofacial, infantile-onset NGS Genetic DNA Test DNA Labs India India	1	1	S Mutation scanning of the entire coding region
Parkinson Disease Gene Panel Mayo Clinic Laboratories Mayo Clinic United States	1	94	D Deletion/duplication analysis C Sequence analysis of the entire coding region
PDE10A - 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
CentoNeuro Panel Centogene AG - the Rare Disease Company Germany	1886	1858	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Parkinson Disease Panel Centogene AG - the Rare Disease Company Germany	78	76	D Deletion/duplication analysis C Sequence analysis of the entire coding region
CentoICU Panel Centogene AG - the Rare Disease Company Germany	829	848	C Sequence analysis of the entire coding region
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Striatal degeneration, autosomal dominant, 616922, Autosomal dominant (PDE10A 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
Striatal degeneration, autosomal dominant, 616922, Autosomal dominant (PDE10A 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
Dyskinesia, limb and orofacial, infantile-onset, 616921, Autosomal recessive (PDE10A 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
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
Parkinson Disease and Parkinsonism Panel PreventionGenetics, part of Exact Sciences United States	68	70	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Cerebral Palsy Spectrum Disorders Panel Baylor Genetics United States	1	419	C Sequence analysis of the entire coding region
Hereditary chorea (WES based NGS panel of 14 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	14	C Sequence analysis of the entire coding region
Structural diseases of basal ganglia (WES based NGS panel of 72 genes, including CNV analysis) CGC Genetics Unilabs Portugal	1	73	C Sequence analysis of the entire coding region
Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal	10	930	C Sequence analysis of the entire coding region
Neurodegenerative Disorders Panel CGC Genetics Unilabs Portugal	15	392	C Sequence analysis of the entire coding region
Neurodevelopmental and Movement Disorders Panel Mendelics Brazil	2	121	C Sequence analysis of the entire coding region
PARKINSON'S DISEASE AND PARKINSONISM EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	96	E Sequence analysis of select exons
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain	1	1202	E Sequence analysis of select exons

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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.