Clinical and research tests for 610250 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Spastic paraplegia 31, autosomal dominant, 610250, Autosomal dominant; SPG31 (Autosomal dominant spastic paraplegia type 31) (REEP1 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
Spastic paraplegia 31, autosomal dominant, 610250, Autosomal dominant; SPG31 (Autosomal dominant spastic paraplegia type 31) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Neutropenia, alloimmune neonatal (FCGR3B gene genotyping) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Receptor expression enhancing protein 1 (REEP1) gene sequencing test Neurogenetics Cyprus Institute of Neurology and Genetics Cyprus	1	1	C Sequence analysis of the entire coding region
MVL Vision Panel Molecular Vision Laboratory United States	1358	1028	C Sequence analysis of the entire coding region
REEP1 - 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
Invitae Nuclear Mitochondrial Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	394	319	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Cerebral Palsy Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States	638	419	D Deletion/duplication analysis
Complex Hereditary Spastic Paraplegia Panel PreventionGenetics, part of Exact Sciences United States	72	87	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hereditary Spastic Paraplegia Comprehensive Panel PreventionGenetics, part of Exact Sciences United States	87	106	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Pure Hereditary Spastic Paraplegia Panel PreventionGenetics, part of Exact Sciences United States	31	36	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
NeuromuscularZoom Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States	480	254	C Sequence analysis of the entire coding region
Leukodystrophy and Leukoencephalopathy Panel PreventionGenetics, part of Exact Sciences United States	202	212	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Hereditary Motor Neuropathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States	60	26	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Neuropathies Panel Labcorp Genetics (formerly Invitae) LabCorp United States	201	96	D Deletion/duplication analysis C Sequence analysis of the entire coding region
REEP1-Related Disorders via the REEP1 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
Invitae Hereditary Spastic Paraplegia Comprehensive Panel Labcorp Genetics (formerly Invitae) LabCorp United States	98	62	D Deletion/duplication analysis 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
Spinal muscular atrophy panel. 30-gene NGS panel. Genologica Medica Spain	65	30	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.