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Results: 41 to 56 of 56

Tests names and labsConditionsGenes, analytes, and microbesMethods

SECKEL SYNDROME

Laboratorio de Genetica Clinica SL
Spain
77
  • C Sequence analysis of the entire coding region

Seckel Syndrome, Mutations (A2101G, G4066T, 2320delA) ATR Gene

Reference Laboratory Genetics
Spain
11
  • E Sequence analysis of select exons

Brain malformations

Asper Biogene Asper Biogene LLC
Estonia
318252
  • C Sequence analysis of the entire coding region

Microcephaly, primary, autosomal recessive and Seckel syndrome spectrum disorders

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
913
  • C Sequence analysis of the entire coding region

Seckel syndrome: ATR gene sequence analysis

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
11
  • C Sequence analysis of the entire coding region

ATR Gene Sequencing and Deletion/Duplication Analysis

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Selected Genetic Syndromes with skeletal involvement Panel

CeGaT GmbH
Germany
3642
  • C Sequence analysis of the entire coding region

Microcephaly

Asper Biogene Asper Biogene LLC
Estonia
11196
  • C Sequence analysis of the entire coding region

Seckel syndrome

Bioarray
Spain
11
  • C Sequence analysis of the entire coding region

Microcephaly and Pontocerebellar Hypoplasia Panel

CeGaT GmbH
Germany
3836
  • C Sequence analysis of the entire coding region

Microcephaly and Pontocerebellar Hypoplasia Panel

CeGaT GmbH
Germany
3836
  • C Sequence analysis of the entire coding region

Seckel Syndrome NGS and Deletion/Duplication Panel

DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
United States
105
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Seckel Syndrome

GeneTech ATS GeneTech Private Limited
India
11
  • E Sequence analysis of select exons

Seckel Syndrome

Institute of Human Genetics Cologne University
Germany
98
  • C Sequence analysis of the entire coding region

Seckel syndrome: ATR gene mutation analysis (A2101G, G4066T, 2320delA)

GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
Spain
11
  • X Mutation scanning of select exons

Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS)

Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center
United States
112116
  • C Sequence analysis of the entire coding region

Results: 41 to 56 of 56

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.