Clinical and research tests for C3553788 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
ATP1A3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	4	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication analysis
Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States	346	160	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Familial Hemiplegic Migraine Panel Invitae United States	21	7	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Comprehensive Deafness Panel Invitae United States	405	219	D Deletion/duplication analysis
Episodic Ataxia Panel PreventionGenetics, part of Exact Sciences United States	61	36	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States	638	419	D Deletion/duplication analysis
Alternating hemiplegia of childhood 2, 614820, Autosomal dominant; AHC2 (Alternating hemiplegia of childhood) (ATP1A3 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
Alternating hemiplegia of childhood 2, 614820, Autosomal dominant; AHC2 (Alternating hemiplegia of childhood) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Alternating hemiplegia of childhood 2, 614820, Autosomal dominant; AHC2 (Alternating hemiplegia of childhood) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Alternating hemiplegia of childhood 2, 614820, Autosomal dominant; AHC2 (Alternating hemiplegia of childhood) (ATP1A3 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
Top 99 Genetic Causes of Developmental Delay Panel PreventionGenetics, part of Exact Sciences United States	170	99	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States	247	163	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States	360	222	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Epilepsy Panel Invitae United States	466	297	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Familial Hemiplegic Migraine and Alternating Hemiplegia of Childhood Panel PreventionGenetics, part of Exact Sciences United States	13	8	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Invitae Dystonia Comprehensive Panel Invitae United States	61	38	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Early Infantile Epileptic Encephalopathy Panel PreventionGenetics, part of Exact Sciences United States	144	124	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Optic Atrophy and Neuropathy Panel PreventionGenetics, part of Exact Sciences United States	96	68	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
ATP1A3 MLPA Institute for Human Genetics University Medical Center Freiburg Germany	4	1	D Deletion/duplication analysis

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