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Results: 1 to 20 of 24

Tests names and labsConditionsGenes, analytes, and microbesMethods

SUGCT - 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

CentoIEM Panel

Centogene AG - the Rare Disease Company
Germany
669688
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CentoMito Comprehensive Panel

Centogene AG - the Rare Disease Company
Germany
406414
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Invitae Nuclear Mitochondrial Disorders Panel

Invitae
United States
394319
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Glutaric aciduria III, 231690, Autosomal recessive (Glutaric acidemia type 3) (SUGCT 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

Glutaric aciduria III, 231690, Autosomal recessive (Glutaric acidemia type 3) (SUGCT 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

qCarrier Plus

Quantitative Genomic Medicine Laboratories, SL
Spain
328300
  • C Sequence analysis of the entire coding region

Invitae Organic Acidemias Panel

Invitae
United States
10897
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

C7orf10 Sequence and Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

C7orf10 Sequence Analysis

Baylor Genetics
United States
11
  • C Sequence analysis of the entire coding region

C7orf10 Prenatal Sequence Analysis

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

C7orf10 Familial Mutation/Variant Analysis

Baylor Genetics
United States
11
  • E Sequence analysis of select exons

C7orf10 Deletion/Duplication Analysis

Baylor Genetics
United States
11
  • D Deletion/duplication analysis

Organic Acid Screen - Urine

Baylor Genetics
United States
1945
  • A Analyte

Organic acidemia / Aciduria and cobalamin deficiency panel. NGS panel of 53 genes.

Genologica Medica
Spain
5353
  • C Sequence analysis of the entire coding region

Peroxisomal disorders panel. NGS panel of 27 genes.

Genologica Medica
Spain
4527
  • C Sequence analysis of the entire coding region

Peroxisomal Disorders Gene Panel

Duzen Laboratories Duzen BBAGUAS
Turkey
3930
  • C Sequence analysis of the entire coding region

Glutaric Acidemia Disorders NGS Panel

Fulgent Genetics
United States
68
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Glutaric Aciduria Panel

CeGaT GmbH
Germany
24
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 24

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.