Proper diagnosis and early intervention is critical to establish treatments needed to improve life quality and longevity for the CCDS patient.

Initial screening for CCDS is non-invasive and is possible by measuring guanidinoacetate (GAA), creatine (Cr), and creatinine (Crn) in plasma and urine. Follow up genomic testing and brain MRI with spectroscopy may be ordered to confirm CDS diagnosis.

CDS Screening

Content above referenced from: Mercimek-Mahmutoglu, Saadel. “Creatine Deficiency Syndromes.” Creatine Deficiency Syndromes. U.S. National Library of Medicine, 18 Aug. 2011. Web. 26 Sept. 2014.

Laboratories

  1. Via Biochemical Assessment

    Biochemical Assessment for Plasma and Urine GAA/Creatine

    • ARUP Laboratories, Biochemical Genetics Laboratory
    • Baylor Miraca Genetics Laboratories
    • Greenwood Genetic Center
    • Kennedy Krieger Institute Genetics Laboratory – Biochemical Genetics Lab
    • Mayo Medical Laboratories
    • MNG Laboratories/ Atlanta Center: Medical Neurogenetics, LLC.,
    • Seattle Children’s Hospital
    • University of Alabama Birmingham, Biochemical Genetics Laboratory
  2. Via Single Gene Sequencing

    Sequencing of GAMT (GAMT Deficiency)

    • ARUP Laboratories, Molecular Genetics Laboratory
    • Baylor Miraca Genetics Laboratories
    • Cincinnati Children’s Hospital Medical Center, Molecular Genetics Laboratory
    • Fulgent Diagnostics
    • Prevention Genetics

    Sequencing of GATM (AGAT Deficiency)

    • ARUP Laboratories, Molecular Genetics Laboratory
    • Baylor Miraca Genetics Laboratories
    • Cincinnati Children’s Hospital Medical Center, Molecular Genetics Laboratory
    • Fulgent Diagnostics
    • Prevention Genetics

    Sequencing of SLC6A8 (Creatine Transporter Deficiency)

    • ARUP Laboratories, Molecular Genetics Laboratory
    • Baylor Miraca Genetics Laboratories
    • Center for Human Genetics, Inc.
    • Cincinnati Children’s Hospital Medical Center, Molecular Genetics Laboratory
    • Fulgent Diagnostics
    • Greenwood Genetic Center Diagnostic Laboratories

    *Deletions/Duplications in these genes appear to be extremely rare. However, some of the above laboratories also offer deletion/duplication testing in addition to sequencing, which may need to be ordered separately if desired.

  3. Via Multigene Panel

    Sequencing Panels that include GAMT

    • Ambry Genetics – Comprehensive Epilepsy Testing (EpiNext)
    • Courtagen Life Sciences – epiSEEK Focus
    • Emory University – Epilepsy and Seizure Disorders Panel
    • Emory University – Neurology: Sequencing Panel
    • Fulgent Diagnostics – Epilepsy NGS Panel
    • Fulgent Diagnostics – Intellectual Disability NGS Panel
    • Fulgent Diagnostics – Lysosomal Disorders NGS Panel
    • GeneDx – Comprehensive Epilepsy Panel
    • GeneDx – Infantile Epilepsy Panel
    • Gene Dx – Childhood Onset Epilepsy Panel
    • Greenwood Genetic Center Diagnostic Laboratories – NGS Epilepsy/Seizure Panel
    • Prevention Genetics – Early Infantile Epileptic Encephalopathy, Recessive NextGen Sequencing (NGS) panel
    • Prevention Genetics – Early Infantile Epileptic Encephalopathy NextGen Sequencing (NGS) Panel

    Sequencing Panels that include GATM

    • Ambry Genetics – Comprehensive Epilepsy Testing (EpiNext)
    • Courtagen Life Sciences – epiSEEK Focus
    • Courtagen Life Sciences – nucSEEK Comprehensive Sequence Analysis of the Nuclear Mitochondrial Exome
    • Emory University – Epilepsy and Seizure Disorders Panel
    • Emory University – Neurology: Sequencing Panel
    • Fulgent Diagnostics – Epilepsy NGS Panel
    • Fulgent Diagnostics – Nuclear-Mito NGS Panel
    • GeneDx – Comprehensive Epilepsy Panel
    • GeneDx – Childhood Onset Epilepsy Panel
    • Greenwood Genetic Center Diagnostic Laboratories – NGS Epilepsy/Seizure Panel

    Sequencing Panels that include SLC6A8

    • ARUP – X-Linked Intellectual Disability Panel
    • Courtagen Life Sciences – devSEEK Sequence Analysis for Neurodevelopmental Disorders, Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
    • Courtagen Life Sciences – nucSEEK Comprehensive Sequence Analysis of the Nuclear Mitochondrial Exome
    • Fulgent Diagnostics – Intellectual Disability NGS Panel
    • Fulgent Diagnostics –Nuclear-Mito NGS Panel
    • InVitae – Early Infantile Epileptic Encephalopathy Panel
    • Transgenomic – Autism Spectrum Disorder/Intellectual Disability/Multiple Congenital Anomalies NGS Panel
    • University of Chicago – Comprehensive Non-Specific ID Sequencing Panel

    Sequencing Panels that include all three (GAMT, GATM and SLC6A8)

    • Courtagen Life Sciences – epiSEEK Infancy and Childhood Epilepsy Panel
    • Courtagen Life Sciences – devACT Clinical Management Panel, Developmental Delay, Intellectual Disability, Autism Spectrum Disorders
    • GeneDx – Comprehensive Mitochondrial Nuclear Gene Panel
    • GeneDx – Combined Mito Genome Plus Mito Nuclear Gene Panel
    • InVitae – Epilepsy Panel
    • Transgenomic – NuclearMitome
    • Transgenomic – Comprehensive Epilepsy Evaluation NGS Panel
    • University of Chicago – Epilepsy Exome Panel

    *Whole Exome Sequencing (WES) is also available through many labs, and this test should also detect all three creatine deficiency syndromes.