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Results: 41 to 60 of 60

Tests names and labsConditionsGenes, analytes, and microbesMethods

Neurotransmitter Metabolism Deficiency NGS Panel

Fulgent Genetics
United States
85101
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Hypomyelinating Leukodystrophy NGS Panel

Fulgent Genetics
United States
22562
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Ashkenazi Jewish Female Carrier Screening Panel

Fulgent Genetics
United States
14842
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Female Carrier Screening Plus Panel

Fulgent Genetics
United States
716335
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Male Carrier Screening Panel

Fulgent Genetics
United States
636298
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Male Carrier Screening Plus Panel

Fulgent Genetics
United States
661306
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Ashkenazi Jewish Male Carrier Screening Panel

Fulgent Genetics
United States
14541
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Beacon Expanded Female Carrier Screening Panel

Fulgent Genetics
United States
690326
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing and CNV Evaluation

Athena Diagnostics
United States
233234
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies

Athena Diagnostics
United States
8084
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Brain malformations

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

Microcephaly

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

Epilepsy/Seizure NGS Panel

Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
United States
158165
  • C Sequence analysis of the entire coding region

PHGDH Single Gene

Fulgent Genetics
United States
21
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Clinical Exome

Fulgent Genetics
United States
51244672
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Serine synthesis defect panel

Genome Diagnostics Laboratory University Medical Center Utrecht
Netherlands
33
  • C Sequence analysis of the entire coding region

Migraine NGS Panel

Fulgent Genetics
United States
4419
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

PHGDH

MGZ Medical Genetics Center
Germany
31
  • C Sequence analysis of the entire coding region

Amino Acid Analysis, Plasma

Quest Diagnostics Nichols Institute San Juan Capistrano
United States
1917
  • A Analyte

Phosphoglycerate dehydrogenase deficiency (PHGDH)

Amsterdam UMC, Location AMC Laboratory Genetic Metabolic Diseases, LGMD
Netherlands
11
  • A Analyte
  • C Sequence analysis of the entire coding region

Results: 41 to 60 of 60

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.