Clinical and research tests for C1865864 - Genetic Testing Registry (GTR) - NCBI

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

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 25

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
SPG11 - 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 Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States	971	680	D Deletion/duplication analysis
Invitae Hereditary Amyotrophic Lateral Sclerosis, Frontotemporal Dementia and Alzheimer Disease Panel Invitae United States	72	33	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Amyotrophic lateral sclerosis 5, juvenile, 602099, Autosomal recessive (Juvenile amyotrophic lateral sclerosis) (SPG11 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
Amyotrophic lateral sclerosis 5, juvenile, 602099, Autosomal recessive (Juvenile amyotrophic lateral sclerosis) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States	480	254	C Sequence analysis of the entire coding region
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neuropathies Panel Invitae United States	201	96	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Hereditary Spastic Paraplegia Comprehensive Panel Invitae United States	98	62	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Charcot-Marie Tooth Disease Comprehensive Panel Invitae United States	123	52	D Deletion/duplication analysis C Sequence analysis of the entire coding region
SPG11 Institute for Human Genetics University Medical Center Freiburg Germany	3	1	C Sequence analysis of the entire coding region
Amyotrophic lateral sclerosis panel. 32-gene NGS panel. Genologica Medica Spain	66	32	C Sequence analysis of the entire coding region
Spastic paraplegia panel Genologica Medica Spain	100	60	C Sequence analysis of the entire coding region
SPG11 MLPA Duplication/Deletion Analysis MNG Laboratories (Medical Neurogenetics, LLC.) United States	3	1	D Deletion/duplication analysis
Frontotemporal dementia and/or Amyotrophic Lateral Sclerosis: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	30	30	I Microsatellite instability testing (MSI) C Sequence analysis of the entire coding region
Amyotrophic Lateral Sclerosis NGS Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States	25	30	C Sequence analysis of the entire coding region
Amyotrophic Lateral Sclerosis , Panel Massive Sequencing (NGS) 12 Genes Reference Laboratory Genetics Spain	12	12	C Sequence analysis of the entire coding region

<< First< Prev

Page 1 of 2

Results: 1 to 20 of 25

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.