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Results: 1 to 20 of 21

Tests names and labsConditionsGenes, analytes, and microbesMethods

Microcephaly Panel

Genetic Services Laboratory University of Chicago
United States
72133
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Schwannomatosis Panel on Tumor Block

UAB Medical Genomics Laboratory UAB Medicine
United States
23
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

NF2-related Schwannomatosis Comprehensive Testing from Paraffin Embedded Biopsy Specimen

UAB Medical Genomics Laboratory UAB Medicine
United States
11
  • L Linkage analysis
  • C Sequence analysis of the entire coding region

MODY Panel

Genetic Services Laboratory University of Chicago
United States
1015
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Congenital Myopathy Panel

Genetic Services Laboratory University of Chicago
United States
3143
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Weaver syndrome testing (EZH2)

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Marshall-smith syndrome testing (NFIX)

Genetic Services Laboratory University of Chicago
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Distal Arthrogryposis Panel

Genetic Services Laboratory University of Chicago
United States
1211
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

HTT Repeat Expansion Analysis

Molecular Pathology Laboratory University of Pennsylvania Health System
United States
11
  • T Targeted variant analysis

Spinal muscular atrophy type 1 (SMN1 gene)

Molecular Genetics and Cytogenetics, Clinical Laboratory Service RED DE SALUD UC CHRISTUS
Chile
11
  • D Deletion/duplication analysis

Neurofibromatosis Type 2 (NF2) Next Genetration Sequencing and Deletion/Duplication Testing

UAB Medical Genomics Laboratory UAB Medicine
United States
11
  • L Linkage analysis
  • C Sequence analysis of the entire coding region

Crigler-Najjar syndrome testing (UGT1A1)

Genetic Services Laboratory University of Chicago
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Oral-facial-digital syndrome testing (OFD1)

Genetic Services Laboratory University of Chicago
United States
31
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hemophagocytic Lymphohistiocytosis (HLH) Extended Genetic Panel (41 genes and UNC13D inversion) (2 Day STAT TAT)

Machaon Diagnostics
United States
741
  • E Sequence analysis of select exons

Hemophagocytic Lymphohistiocytosis (HLH) Genetic Panel (32 genes and UNC13D inversion) (2 Day STAT TAT)

Machaon Diagnostics
United States
732
  • E Sequence analysis of select exons

SNP Microarray

Center for Human Genetics, Inc
United States
11
  • D Deletion/duplication analysis

Genomic Screening

Laboratory for Molecular Medicine Mass General Brigham Personalized Medicine
United States
11
  • S Mutation scanning of the entire coding region

PTEN Sequencing and Deletion/Duplication on Blood

UAB Medical Genomics Laboratory UAB Medicine
United States
51
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Calreticulin, Exon 9 Mutation Analysis

UCSF Molecular Diagnostics Laboratory University of California, San Francisco
United States
11
  • X Mutation scanning of select exons
  • E Sequence analysis of select exons

RUNX1 - Genetic Analysis

Versiti Diagnostic Laboratories Versiti, Inc
United States
21
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 21

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.