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Results: 1 to 20 of 55

Tests names and labsConditionsGenes, analytes, and microbesMethods

Early Onset IBD Gene Panel

Mayo Clinic Laboratories Mayo Clinic
United States
163110
  • C Sequence analysis of the entire coding region

Congenital Neutropenia GenePanel

Mayo Clinic Laboratories Mayo Clinic
United States
4630
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

G6PC3 - NGS including CNV analysis

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

CentoImmuno Panel

Centogene AG - the Rare Disease Company
Germany
323329
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Bone Marrow Failure / Anemia Panel

Centogene AG - the Rare Disease Company
Germany
212212
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Inborn Errors of Immunity and Cytopenias Panel

Invitae
United States
755562
  • D Deletion/duplication analysis

Invitae Supplemental Metabolic Newborn Screening Panel

Invitae
United States
253189
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Phagocytic Disorders Including Neutropenia Panel

Invitae
United States
9268
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Congenital Diarrhea Panel

Invitae
United States
12183
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

MarrowZoom

Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital
United States
250155
  • C Sequence analysis of the entire coding region

Inherited Bone Marrow Failure Panel

PreventionGenetics, Part of Exact Sciences
United States
267186
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Neutropenia, severe congenital 4, autosomal recessive, 612541, Autosomal recessive (Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency) (G6PC3 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

Neutropenia, severe congenital 4, autosomal recessive, 612541, Autosomal recessive (Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency) (G6PC3 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

Dursun syndrome, 612541, Autosomal recessive (Dursun syndrome) (G6PC3 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

Dursun syndrome, 612541, Autosomal recessive (Dursun syndrome) (G6PC3 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

Congenital Diarrhea and Enteropathies Panel

PreventionGenetics, Part of Exact Sciences
United States
241157
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

Invitae Comprehensive Carrier Screen

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

Invitae Autoinflammatory and Autoimmunity Syndromes Panel

Invitae
United States
223154
  • D Deletion/duplication analysis

Invitae Monogenic Inflammatory Bowel Disease Panel

Invitae
United States
10867
  • D Deletion/duplication analysis

Invitae Primary Immunodeficiency Panel

Invitae
United States
552424
  • D Deletion/duplication analysis

Results: 1 to 20 of 55

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.