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Results: 1 to 20 of 51 (representing 28 labs)

Tests names and labsConditionsGenes and analytesMethods

AllNeuro panel

Centogene AG - the Rare Disease Company
Germany
7861205
  • C Sequence analysis of the entire coding region

Creatine deficiency syndrome X-linked

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

Creatine Deficiency Syndrome via the SLC6A8 Gene

PreventionGenetics
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

qCarrier Plus

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

SLC6A8. Complete sequencing

Instituto de Medicina Genomica
Spain
11
  • C Sequence analysis of the entire coding region

SLC6A8 Sequence Analysis

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • C Sequence analysis of the entire coding region
  • T Targeted variant analysis

SLC6A8 Sequence Analysis (Prenatal Diagnosis)

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
11
  • T Targeted variant analysis

X-chromosome High Resolution microarray analysis

Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center
United States
242171
  • D Deletion/duplication analysis

Biochemistry 7-Plex Autism Panel

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
87
  • A Analyte

Creatine and Guanidinoacetate Determination - Urine

Baylor Miraca Genetics Laboratories Baylor College of Medicine
United States
32
  • A Analyte

nucSEEK® Comprehensive Sequence Analysis Of The Nuclear Mitochondrial Exome

Courtagen Diagnostics Laboratory Courtagen Life Sciences
United States
560420
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

CREATINE TRANSPORTER DEFICIENCY (X-LINKED9

Laboratorio de Genetica Clinica SL
Spain
11
  • C Sequence analysis of the entire coding region

CREATINE DEFICIENCY

Laboratorio de Genetica Clinica SL
Spain
33
  • C Sequence analysis of the entire coding region

X-Linked Creatine Transporter Deficiency , Deletions-Duplications (MLPA) SLC6A8 Gene

Reference Laboratory Genetics
Spain
11
  • D Deletion/duplication analysis

X-Linked Creatine Transporter Deficiency , Sequencing SLC6A8 Gene

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

Invitae Treatable Neurometabolic Disorders Panel

Invitae
United States
11692
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Rapid Epilepsy Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1917
  • D Deletion/duplication analysis

CHOP Epilepsy Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
9189
  • C Sequence analysis of the entire coding region

Rapid Epilepsy Seq + Del/Dup Panel

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1917
  • D Deletion/duplication analysis
  • C Sequence analysis of the entire coding region

Rapid Epilepsy Seq Analysis

Division of Genomic Diagnostics The Children's Hospital of Philadelphia
United States
1917
  • C Sequence analysis of the entire coding region

Results: 1 to 20 of 51

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.

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