Clinical and research tests for C1863704 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
WASHC5 - 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
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
Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States	320	231	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Spastic paraplegia 8, autosomal dominant, 603563, Autosomal dominant; SPG8 (Autosomal dominant spastic paraplegia type 8) (WASHC5 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
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
Spastic Paraplegia 8 via the WASHC5/KIAA0196 Gene PreventionGenetics, part of Exact Sciences United States	1	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
WASHC5 Institute for Human Genetics University Medical Center Freiburg Germany	2	1	C Sequence analysis of the entire coding region
Macrocephaly / overgrowth syndrome panel. 43-gene NGS panel. Genologica Medica Spain	88	43	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
Spastic paraplegia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	55	54	C Sequence analysis of the entire coding region
Spastic Paraplegia 8: gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada	1	1	C Sequence analysis of the entire coding region
Hereditary Spastic Paraplegia NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States	81	79	C Sequence analysis of the entire coding region
SPASTIC PARAPLEGIA, FAMILIAL (AUTOSOMAL DOMINANT) Laboratorio de Genetica Clinica SL Spain	11	11	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HSP, Complete Dominant Evaluation Athena Diagnostics United States	17	10	D Deletion/duplication analysis C Sequence analysis of the entire coding region
HSP, Supplemental Sporadic Evaluation Athena Diagnostics United States	24	22	C Sequence analysis of the entire coding region
HSP, Comprehensive Evaluation Athena Diagnostics United States	40	24	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.