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Results: 1 to 11 of 11

Tests names and labsConditionsGenes, analytes, and microbesMethods

KPTN - NGS including CNV analysis

Centogene AG - the Rare Disease Company
Germany
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoNeuro Panel

Centogene AG - the Rare Disease Company
Germany
18861858
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability Panel

Centogene AG - the Rare Disease Company
Germany
777770
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Overgrowth Syndromes Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
9653
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Mental retardation, autosomal recessive 41, 615637, Autosomal recessive; MRT41 (Macrocephaly-developmental delay syndrome) (KPTN gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Mental retardation, autosomal recessive 41, 615637, Autosomal recessive; MRT41 (Macrocephaly-developmental delay syndrome) (KPTN gene) (Sequence Analysis-All Coding Exons) (Prenatal)

Intergen Intergen Genetics and Rare Diseases Diagnosis Center
Turkey
11
  • C Sequence analysis of the entire coding region

Overgrowth and Macrocephaly Syndromes Panel

PreventionGenetics, part of Exact Sciences
United States
145112
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Macrocephaly / overgrowth syndrome panel. 43-gene NGS panel.

Genologica Medica
Spain
8843
  • C Sequence analysis of the entire coding region

Mental retardation, autosomal recessive: Full gene sequencing panel

CEN4GEN Institute for Genomics and Molecular Diagnostics
Canada
4848
  • C Sequence analysis of the entire coding region

Invitae Overgrowth and Macrocephaly Syndromes Panel

Labcorp Genetics (formerly Invitae) LabCorp
United States
4320
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

KPTN Defect Syndrome Targeted Testing

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
11
  • T Targeted variant analysis

Results: 1 to 11 of 11

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.