Find a Diagnostic Genetic Testing Lab

Below is a table listing of laboratories conducting genetic tests that include some or all three Cerebral Creatine Deficiency Syndromes (CCDS) genes in their product listings.

  • CTD gene: SLC6A8
  • GAMT gene: GAMT
  • AGAT gene: GATM

Some labs have also listed CCDS biochemical tests (urine, plasma).

  • Biochemical diagnosis is possible by measuring guanidinoacetate (GAA), creatine (Cr), and creatinine (Crn) in plasma and urine.

The biochemical profiles are specific for each clinical entity.
- AGAT patients typically exhibit normal to low Cr, low GAA, and normal to low Crn.
- GAMT patients typically exhibit normal to low Cr, very elevated GAA, and low Crn.
- In comparison, elevated Cr, normal GAA, normal to low Crn, and an elevated Cr:Crn ratio characterize CTD patients.



Currently, laboratory listings for CCDS in ScreenCreatine.org include labs located in the Canada, Estonia, Germany, Netherlands, Portugal, Spain, Sweden, Switzerland and the United States.
If your lab conducts molecular and/or biochemical investigations for any of the CCDS, please contact us and we will update this listing.


This finder is provided as a resource to you for informational purposes only and does not imply an endorsement, referral or recommendation of a particular Laboratory or Institution by Lumos Pharma Inc.
You are solely responsible for the selection of the Laboratory or Institution you wish to contact and any communications that you have as a result of that contact. Lumos Pharma accepts no responsibility or liability for the content of this finder or qualification of the Laboratory or Institution listed. No fees have been paid or received by Lumos Pharma in order for a Laboratory or Institution to be listed in this finder.

This finder may not include the most up-to-date information available.

Directory of Labs Testing for CCDS

Navigating the below table:
Swipe to the left to see the website hyperlinks.
Sorting available at the top of each column.
Use the search field at the top right of the table for specific queries.
CountryName of CCDS Related Tests Performed at this LabLab Focus: Molecular (DNA-genetics), Biochemical (Blood, Urine) or both Lab NameCityStatePhone NumberLab Website
CanadaNGS of GAMT, GATM and SLC6A8 Genes; Treatable Seizures Spotlight PanelMolecular LabSherbrooke Genomic MedicineSherbrooke+1-8668403105http://sgm.med.usherbrooke.ca
EstoniaSLC6A8 Sequencing, GAMT Sequencing, GATM Sequencing, Epilepsy/Seizures PanelsMolecular LabAsper Biotech LtdTartu+372-7307295http://www.asperbio.com/
GermanySLC6A8 Sequencing Test, SLC6A8 deletion/duplication test (MLPA),GATM sequence analysis (all coding exons), GAMT sequence analysis (all coding exons),CCDS panel NGS of SLC6A8, GATM, GAMTMolecular LabCeGaT GmbHTubingen+49-70715654455http://www.cegat.com/
GermanySLC6A8 Sequencing TestMolecular LabMGZ MunchenMunchen+49-8930908860http://www.mgz-muenchen.de/
GermanySLC6A8,GAMT, GATM mutation analysis (Full gene sequencing, Deletion duplication with qPCR, carrier testing)
NGS CCDS panel,
X-linked Intellectual Disability Panels, Epilepsy Disorder Panels, etc.
Molecular LabCentogeneRostock+49-3812036520http://www.centogene.com/
NetherlandsBiochemical Creatine Disorders Panels, SLC6A8 Sequencing Test, SLC6A8 Mutation Analysis TestBiochemical and Molecular LabVUmc- VU University Medical CenterAmsterdam+31-204448346http://www.amsterdamgenomedx.com
PortugalSLC6A8 Sequencing TestMolecular LabCGC GeneticsPortohttp://www.cgcgenetics.com/
SpainSLC6A8 Sequencing TestMolecular LabReference Laboratory GeneticsBarcelona+34-932593700http://www.referencelaboratory.es
SpainSLC6A8 Sequencing Test,Molecular LabBioarrayElche+34-966682500http://www.bioarray.es/en
SwedenSLC6A8 Sequencing Test, Qualitative Biochemical AnalysisMolecular LabKarolinska University HospitalStockholm+46-851773928http://www.karolinska.se/genetics
SwitzerlandSLC6A8 Sequencing TestMolecular LabUniversity Hospital of LausanneLausanne+41-213143370
United States of AmericaMolecular LabTransgenomicOmahaNE+1-4024525402http://www.transgenomic.com/labs
United States of AmericaCRDPU- Creatine Disorders Panel, Urine
SNS – Supplemental Newborn Screen or NBSE – Newborn screening, Expanded Panel – both detect GAMT, may pick up AGAT and Creatine transporter defect
Biochemical LabMayo ClinicRochesterMN1-800-533-1710http://www.mayomedicallaboratories.com/
United States of AmericaEpilepsy/Seizures PanelsMolecular LabKnight Molecular DiagnosticPortlandOR+1-5034945400http://www.knightdxlabs.com/home/methodological-test-listing?q=Molecular+Genetics
United States of AmericaQuantitative Biochemical AnalysisBiochemical LabKennedy Krieger InstituteBaltimoreMD+1-4439232782https://www.kennedykrieger.org/patient-care/patient-care-laboratories/genetics-laboratories?utm_source=genetics.kennedykrieger.org&utm_medium=redirect&utm_campaign=genetics-redirect
United States of AmericaInvitae Cerebral Creatine Deficiency PanelMolecular LabInvitaeSan FranciscoCA+1-4153747782, +1-8004363037https://www.invitae.com
United States of AmericaBiochemical Creatine Disorders Panels, SLC6A8 Targeted Mutation Analysis Test, SLC6A8 Sequencing Test, SLC6A8 Deletion/Duplication Test,Epilepsy and Seizure Disorder Panels,Molecular and Biochemical LabGreenwood Genetic Center Diagnostic LaboratoriesGreenwoodSC+1-8004739411http://www.ggc.org/diagnostic.html
United States of AmericaBiochemical tests for CCDS (urine and plasma)Biochemical LabUAB- The University of Alabama at BirminghamBirminghamAL+1-2059750206http://www.uab.edu/medicine/genetics/medical-genomics-laboratory
United States of AmericaEarly Onset Epileptic Encephalopathy NGS panel( including SLC6A8, GAMT, GATM)Molecular LabFulgent DiagnosticsTemple CityCA+1-6263500537http://fulgentdiagnostics.com
United States of AmericaX-Linked Intellectual Disability Panels,Molecular LabEmory Genetics LaboratoryDecaturGA+1-8558317447http://www.geneticslab.emory.edu/
United States of AmericaQuantitative analysis of creatine, guanidinoacetate and creatinine (plasma, serum and urine)Biochemical LabDuke University Health SystemDurhamNC+1-9195490445https://pediatrics.duke.edu/divisions/medical-genetics/biochemical-genetics-laboratory/mass-spectrometry-laboratory
United States of AmericaSLC6A8, GAMT, GATM Full Sequencing Tests, Creatine Deficiency NGS PanelMolecular LabDDC Clinic Molecular Diagnostics LaboratoryMiddlefieldOH+1-4406325532http://DDCcliniclab.org
United States of AmericaepiSEEK®
epiSEEK® Spotlight Panel - Treatable Epilepsies
theraSEEK™
Molecular LabCourtagen Life SciencesWoburnMA+1-8773957608http://www.courtagen.com/
United States of AmericaSLC6A8 Sequencing TestMolecular LabChildrens Mercy Hospital and Clinics-Molecular Genetics LaboratoryKansas CityMO+1-8167014801http://www.childrensmercy.org/Content/view.aspx?id=2547
United States of AmericaSLC6A8 Sequencing Test, X-Linked Intellectual Disability Panels,Molecular LabCGC Genetics USANewarkNJ+1-9736231264
United States of AmericaSLC6A8 GenotypingMolecular LabRecombineLivingstonNJ+1-8556874363http://www.recombine.com/
United States of AmericaIndividual Sanger testing for the GAMT, GATM and SLC6A8 genes, X-Linked Intellectual Disability Panels,Molecular LabPrevention GeneticsMarshfieldWI+1-7153870484http://www.preventiongenetics.com/
United States of AmericaSLC6A8 Targeted Mutation Analysis Test,SLC6A8 Sequencing Test,X-Linked Intellectual Disability Panels,SLC6A8 Deletion/Duplication TestMolecular LabCenter for Human Genetics, Inc.CambridgeMA+1-6174927083http://chginc.org/
United States of AmericaPan-Ethnic Extended PanelMolecular LabNatera, Inc.San CarlosCA+1-6502499090http://www.natera.com
United States of AmericaX-Linked Intellectual Disability Panels, Creatine Metabolism Disorder PanelsMolecular LabBlueprint GeneticsSan FranciscoCA+1-6504529340http://www.blueprintgenetics.com/
United States of AmericaSLC6A8, GAMT, GATM Sequencing TestsMolecular LabMolecular Genetics LaboratoryCincinnatiOH+1-5136364474https://www.cincinnatichildrens.org/service/d/diagnostic-labs/molecular-genetics/?utm_source=Molecular%2BGenetics%2BLaboratory&utm_medium=shortcut&utm_campaign=molecular-genetics
United States of AmericaSLC6A8 Sequencing
GAMT Sequencing + Deletion/Duplication
GATM Sequencing + Deletion/Duplication
Creatine Panel
Creatine and Guandinoacetate Determination (both urine and plasma testing available)
Molecular LabBaylor Miraca Genetics LaboratoriesHoustonTX+1-800411GENEhttp://www.bmgl.com
United States of AmericaBiochemical tests (creatine and GAA urine),SLC6A8, GAMT and GATM Sequencing, Comprehensive and Actionable Epilepsy, Comprehensive Intellectual DisabilityMolecular LabMNG LaboratoriesAtlantaGA+1-6782250222http://www.mnglabs.com/
United States of AmericaBiochemical Creatine Disorders Panels, SLC6A8 Sequencing Test, SLC6A8 Mutation Analysis TestBiochemical and Molecular LabARUP LaboratoriesSalt Lake CityUT+1-8018422787http://www.aruplab.com/genetics
United States of AmericaSLC6A8, GATM, GAMT Next Gen sequencingMolecular LabAmbry Genetics Corp.Aliso ViejoCA+1-9499005500http://www.ambrygen.com/
United States of AmericaSLC6A8 Sequencing Test, X-Linked Intellectual Disability Panels, SLC6A8 Deletion/Duplication Test,Molecular LabGeneDxGaithersburgMD+1-3015192100http://www.genedx.com/
United States of AmericaBiochemical Creatine Disorders Panel TestsBiochemical and Molecular LabUniversity of Rochester Medical Center - Strong Memorial HospitalRochesterNY+1-5852732229https://www.urmc.rochester.edu/pathology-labs/clinical/molecular-diagnostics.aspx
United States of AmericaBiochemical Creatine Disorders Panel TestsBiochemical and Molecular LabPathGroupBrentwoodTN+1-8003665847http://www.pathgroup.com/
United States of AmericaBiochemical Creatine Disorders Panel TestsBiochemical and Molecular LabTriCore Reference LaboratoriesAlbuquerqueNM+1-5059388888 http://www.tricore.org/home

This finder is provided as a resource to you for informational purposes only and does not imply an endorsement, referral or recommendation of a particular Laboratory or Institution by Lumos Pharma Inc. You are solely responsible for the selection of the Laboratory or Institution you wish to contact and any communications that you have as a result of that contact. Lumos Pharma accepts no responsibility or liability for the content of this finder or qualification of the Laboratory or Institution listed. No fees have been paid or received by Lumos Pharma in order for a Laboratory or Institution to be listed in this finder. This finder may not include the most up-to-date information available.
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