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Results: 1 to 20 of 40

Tests names and labsConditionsGenes, analytes, and microbesMethods

MECP2 - MLPA

Centogene AG - the Rare Disease Company
Germany
51
  • D Deletion/duplication analysis

MECP2 - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel

Invitae
United States
971680
  • D Deletion/duplication analysis

Invitae Neurodevelopmental Disorders Panel

Invitae
United States
404241
  • D Deletion/duplication analysis

Congenital Anomalies of the Gastrointestinal Tract Panel

PreventionGenetics, part of Exact Sciences
United States
297180
  • 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
638419
  • D Deletion/duplication analysis

Autism Spectrum Disorders (ASD) Panel

PreventionGenetics, part of Exact Sciences
United States
224170
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Mental retardation, X-linked, syndromic 13, 300055, X-linked recessive; MRXS13 (X-linked intellectual disability-psychosis-macroorchidism syndrome) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Mental retardation, X-linked, syndromic 13, 300055, X-linked recessive; MRXS13 (X-linked intellectual disability-psychosis-macroorchidism syndrome) (Prenatal) (MLPA)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • D Deletion/duplication analysis

Top 99 Genetic Causes of Developmental Delay Panel

PreventionGenetics, part of Exact Sciences
United States
17099
  • 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
247163
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Comprehensive Carrier Screen

Invitae
United States
886547
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Epilepsy Panel

Invitae
United States
466297
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

X-Linked Intellectual Disability Panel

PreventionGenetics, part of Exact Sciences
United States
191141
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

MECP2 Deletion/Duplication Analysis (Prenatal Diagnosis)

Baylor Genetics
United States
61
  • D Deletion/duplication analysis

MECP2 Deletion/Duplication Analysis

Baylor Genetics
United States
61
  • D Deletion/duplication analysis

MECP2 Comprehensive - Sequence & Deletion/Duplication Analysis

Baylor Genetics
United States
61
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MitoMet®Plus aCGH Analysis

Baylor Genetics
United States
842637
  • D Deletion/duplication analysis

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
240171
  • D Deletion/duplication analysis

MECP2 MLPA Duplication/Deletion Analysis

MNG Laboratories (Medical Neurogenetics, LLC.)
United States
51
  • D Deletion/duplication analysis

Results: 1 to 20 of 40

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.