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Results: 41 to 60 of 68

Tests names and labsConditionsGenes, analytes, and microbesMethods

MED12

Institute for Human Genetics University Medical Center Freiburg
Germany
41
  • C Sequence analysis of the entire coding region

Ohdo Syndrome, Maat-Kievit-Brunner Type (MED12 Single Gene Test)

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neonatal Epilepsy NGS Panel

Fulgent Genetics
United States
509275
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Lujan Syndrome (MED12 Single Gene Test)

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Neuronal Migration Disorders NGS Panel

Fulgent Genetics
United States
39283
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Macrocephaly/Overgrowth Syndrome NGS Panel

Fulgent Genetics
United States
10038
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Macrocephaly , Panel Massive Sequencing (NGS) 16 Genes

Reference Laboratory Genetics
Spain
2016
  • C Sequence analysis of the entire coding region

Mental Retardation (Complete Panel) , Panel Massive Sequencing (NGS) 91 Genes

Reference Laboratory Genetics
Spain
9491
  • C Sequence analysis of the entire coding region

LUJAN-FRYNS SYNDROME (X-LINKED MENTAL RETARDATION WITH MARFANOID HABITUS)

Laboratorio de Genetica Clinica SL
Spain
13
  • E Sequence analysis of select exons
  • C Sequence analysis of the entire coding region

Lujan-Fryns Syndrome, Sequencing MED12 Gene

Reference Laboratory Genetics
Spain
11
  • C Sequence analysis of the entire coding region

Invitae Overgrowth and Macrocephaly Syndromes Panel

Invitae
United States
4320
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Connective Tissue Panel

Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia
United States
4440
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

qGenEx Craniofacial Anomalies

Quantitative Genomic Medicine Laboratories, SL
Spain
135136
  • C Sequence analysis of the entire coding region

Epilepsy Comprehensive NGS Panel

Fulgent Genetics
United States
729398
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Selected Genetic Syndromes with Seizures Panel

CeGaT GmbH
Germany
520
  • C Sequence analysis of the entire coding region

Marfan/TAAD Sequencing Panel

GeneDx
United States
916
  • S Mutation scanning of the entire coding region

MED12 Single Gene

Fulgent Genetics
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51294672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

XLID (X-Linked Intellectual Disability) NGS Panel

Fulgent Genetics
United States
162117
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Intellectual Disability NGS Panel

Fulgent Genetics
United States
1058554
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Results: 41 to 60 of 68

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.