Clinical and research tests for AP4M1 - Genetic Testing Registry (GTR) - NCBI

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Results: 21 to 40 of 73

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Spastic paraplegia 50, autosomal recessive, 612936, Autosomal recessive; SPG50 (Severe intellectual disability and progressive spastic paraplegia) (AP4M1 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
Genomic Unity Motor Neuron Disorders Analysis (includes AR, C9ORF72 STR analysis) Variantyx, Inc. United States	14	118	D Deletion/duplication analysis X Mutation scanning of select exons 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
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
Genomic Unity Epilepsy Analysis (includes STR analysis of 6 loci) Variantyx, Inc. United States	1	378	D Deletion/duplication analysis X Mutation scanning of select exons C Sequence analysis of the entire coding region
Epilepsy - Intellectual Disability - Autism Spectrum Disorder Amplexa Genetics Amplexa Genetics A/S Denmark	1	600	S Mutation scanning of the entire coding region
Ataxia Exome Genetic Services Laboratory University of Chicago United States	294	481	C Sequence analysis of the entire coding region
Hereditary Spastic Paraplegia Exome Genetic Services Laboratory University of Chicago United States	22	60	C Sequence analysis of the entire coding region
Spastic Paraplegia 50 via the AP4M1 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
Neurodegeneration with Brain Iron Accumulation Panel PreventionGenetics, part of Exact Sciences United States	18	16	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
Non-Specific Intellectual Disability Panel Genetic Services Laboratory University of Chicago United States	6	216	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Autosomal Recessive Non-Specific Intellectual Disability Panel Genetic Services Laboratory University of Chicago United States	1	54	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Cerebral Palsy Spectrum Disorders Panel Baylor Genetics United States	1	419	C Sequence analysis of the entire coding region
Comprehensive Epilepsy MNG Laboratories (Medical Neurogenetics, LLC.) United States	414	800	C Sequence analysis of the entire coding region
Microcephaly and pontocerebellar hypoplasia (WES based panel of 53 genes, incluiding CNV analysis) CGC Genetics Unilabs Portugal	1	53	C Sequence analysis of the entire coding region
Hereditary Spastic Paraplegia Panel CGC Genetics Unilabs Portugal	1	97	C Sequence analysis of the entire coding region
Intellectual Disability Panel CGC Genetics Unilabs Portugal	1	1307	C Sequence analysis of the entire coding region
Spastic paraplegia type 50 (SPG50, sequence analysis of AP4M1 gene) CGC Genetics Unilabs Portugal	1	1	C Sequence analysis of the entire coding region
Spastic Paraplegia and Amyotrophic Lateral Sclerosis Panel Mendelics Brazil	2	60	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.