Clinical and research tests for C1968556 - Genetic Testing Registry (GTR) - NCBI

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Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
RETT syndrome (MECP2) Molecular Genetics Laboratory London Health Sciences Centre Canada	2	1	D Deletion/duplication analysis S Mutation scanning of the entire coding region C Sequence analysis of the entire coding region
Rett Syndrome exon 4 hotspot mutations Molecular Genetics Laboratory All India Institute of Medical Sciences Kalyani India	2	1	X Mutation scanning of select exons
MECP2 - MLPA Centogene AG - the Rare Disease Company Germany	5	1	D Deletion/duplication analysis
MECP2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany	5	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 Neurodevelopmental Disorders Panel Invitae United States	404	241	D Deletion/duplication analysis
Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States	297	180	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
Autism Spectrum Disorders (ASD) Panel PreventionGenetics, part of Exact Sciences United States	224	170	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Encephalopathy, neonatal severe, 300673, X-linked recessive (Severe neonatal-onset encephalopathy with microcephaly) (MECP2 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
Encephalopathy, neonatal severe, 300673, X-linked recessive (Severe neonatal-onset encephalopathy with microcephaly) (MECP2 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
Encephalopathy, neonatal severe, 300673, X-linked recessive (Severe neonatal-onset encephalopathy with microcephaly) (Prenatal) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
Encephalopathy, neonatal severe, 300673, X-linked recessive (Severe neonatal-onset encephalopathy with microcephaly) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey	1	1	D Deletion/duplication analysis
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
Invitae Comprehensive Carrier Screen Invitae United States	886	547	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Invitae Epilepsy Panel Invitae United States	466	297	D Deletion/duplication analysis C Sequence analysis of the entire coding region
X-Linked Intellectual Disability Panel PreventionGenetics, part of Exact Sciences United States	191	141	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
MECP2 Sequence Analysis (Prenatal Diagnosis) Baylor Genetics United States	6	1	T Targeted variant analysis
MECP2 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States	6	1	T Targeted variant analysis

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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.