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.
| Country | Name of CCDS Related Tests Performed at this Lab | Lab Focus: Molecular (DNA-genetics), Biochemical (Blood, Urine) or both | Lab Name | City | State | Phone Number | Lab Website |
|---|---|---|---|---|---|---|---|
| Canada | NGS of GAMT, GATM and SLC6A8 Genes; Treatable Seizures Spotlight Panel | Molecular Lab | Sherbrooke Genomic Medicine | Sherbrooke | +1-8668403105 | http://sgm.med.usherbrooke.ca | |
| Estonia | SLC6A8 Sequencing, GAMT Sequencing, GATM Sequencing, Epilepsy/Seizures Panels | Molecular Lab | Asper Biotech Ltd | Tartu | +372-7307295 | http://www.asperbio.com/ | |
| Germany | SLC6A8 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, GAMT | Molecular Lab | CeGaT GmbH | Tubingen | +49-70715654455 | http://www.cegat.com/ | |
| Germany | SLC6A8 Sequencing Test | Molecular Lab | MGZ Munchen | Munchen | +49-8930908860 | http://www.mgz-muenchen.de/ | |
| Germany | SLC6A8,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 Lab | Centogene | Rostock | +49-3812036520 | http://www.centogene.com/ | |
| Netherlands | Biochemical Creatine Disorders Panels, SLC6A8 Sequencing Test, SLC6A8 Mutation Analysis Test | Biochemical and Molecular Lab | VUmc- VU University Medical Center | Amsterdam | +31-204448346 | http://www.amsterdamgenomedx.com | |
| Portugal | SLC6A8 Sequencing Test | Molecular Lab | CGC Genetics | Porto | http://www.cgcgenetics.com/ |
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| Spain | SLC6A8 Sequencing Test | Molecular Lab | Reference Laboratory Genetics | Barcelona | +34-932593700 | http://www.referencelaboratory.es | |
| Spain | SLC6A8 Sequencing Test, | Molecular Lab | Bioarray | Elche | +34-966682500 | http://www.bioarray.es/en | |
| Sweden | SLC6A8 Sequencing Test, Qualitative Biochemical Analysis | Molecular Lab | Karolinska University Hospital | Stockholm | +46-851773928 | http://www.karolinska.se/genetics | |
| Switzerland | SLC6A8 Sequencing Test | Molecular Lab | University Hospital of Lausanne | Lausanne | +41-213143370 | ||
| United States of America | Molecular Lab | Transgenomic | Omaha | NE | +1-4024525402 | http://www.transgenomic.com/labs | |
| United States of America | CRDPU- 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 Lab | Mayo Clinic | Rochester | MN | 1-800-533-1710 | http://www.mayomedicallaboratories.com/ |
| United States of America | Epilepsy/Seizures Panels | Molecular Lab | Knight Molecular Diagnostic | Portland | OR | +1-5034945400 | http://www.knightdxlabs.com/home/methodological-test-listing?q=Molecular+Genetics |
| United States of America | Quantitative Biochemical Analysis | Biochemical Lab | Kennedy Krieger Institute | Baltimore | MD | +1-4439232782 | https://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 America | Invitae Cerebral Creatine Deficiency Panel | Molecular Lab | Invitae | San Francisco | CA | +1-4153747782, +1-8004363037 | https://www.invitae.com |
| United States of America | Biochemical Creatine Disorders Panels, SLC6A8 Targeted Mutation Analysis Test, SLC6A8 Sequencing Test, SLC6A8 Deletion/Duplication Test,Epilepsy and Seizure Disorder Panels, | Molecular and Biochemical Lab | Greenwood Genetic Center Diagnostic Laboratories | Greenwood | SC | +1-8004739411 | http://www.ggc.org/diagnostic.html |
| United States of America | Biochemical tests for CCDS (urine and plasma) | Biochemical Lab | UAB- The University of Alabama at Birmingham | Birmingham | AL | +1-2059750206 | http://www.uab.edu/medicine/genetics/medical-genomics-laboratory |
| United States of America | Early Onset Epileptic Encephalopathy NGS panel( including SLC6A8, GAMT, GATM) | Molecular Lab | Fulgent Diagnostics | Temple City | CA | +1-6263500537 | http://fulgentdiagnostics.com |
| United States of America | X-Linked Intellectual Disability Panels, | Molecular Lab | Emory Genetics Laboratory | Decatur | GA | +1-8558317447 | http://www.geneticslab.emory.edu/ |
| United States of America | Quantitative analysis of creatine, guanidinoacetate and creatinine (plasma, serum and urine) | Biochemical Lab | Duke University Health System | Durham | NC | +1-9195490445 | https://pediatrics.duke.edu/divisions/medical-genetics/biochemical-genetics-laboratory/mass-spectrometry-laboratory |
| United States of America | SLC6A8, GAMT, GATM Full Sequencing Tests, Creatine Deficiency NGS Panel | Molecular Lab | DDC Clinic Molecular Diagnostics Laboratory | Middlefield | OH | +1-4406325532 | http://DDCcliniclab.org |
| United States of America | epiSEEK® epiSEEK® Spotlight Panel - Treatable Epilepsies theraSEEK™ | Molecular Lab | Courtagen Life Sciences | Woburn | MA | +1-8773957608 | http://www.courtagen.com/ |
| United States of America | SLC6A8 Sequencing Test | Molecular Lab | Childrens Mercy Hospital and Clinics-Molecular Genetics Laboratory | Kansas City | MO | +1-8167014801 | http://www.childrensmercy.org/Content/view.aspx?id=2547 |
| United States of America | SLC6A8 Sequencing Test, X-Linked Intellectual Disability Panels, | Molecular Lab | CGC Genetics USA | Newark | NJ | +1-9736231264 | |
| United States of America | SLC6A8 Genotyping | Molecular Lab | Recombine | Livingston | NJ | +1-8556874363 | http://www.recombine.com/ |
| United States of America | Individual Sanger testing for the GAMT, GATM and SLC6A8 genes, X-Linked Intellectual Disability Panels, | Molecular Lab | Prevention Genetics | Marshfield | WI | +1-7153870484 | http://www.preventiongenetics.com/ |
| United States of America | SLC6A8 Targeted Mutation Analysis Test,SLC6A8 Sequencing Test,X-Linked Intellectual Disability Panels,SLC6A8 Deletion/Duplication Test | Molecular Lab | Center for Human Genetics, Inc. | Cambridge | MA | +1-6174927083 | http://chginc.org/ |
| United States of America | Pan-Ethnic Extended Panel | Molecular Lab | Natera, Inc. | San Carlos | CA | +1-6502499090 | http://www.natera.com |
| United States of America | X-Linked Intellectual Disability Panels, Creatine Metabolism Disorder Panels | Molecular Lab | Blueprint Genetics | San Francisco | CA | +1-6504529340 | http://www.blueprintgenetics.com/ |
| United States of America | SLC6A8, GAMT, GATM Sequencing Tests | Molecular Lab | Molecular Genetics Laboratory | Cincinnati | OH | +1-5136364474 | https://www.cincinnatichildrens.org/service/d/diagnostic-labs/molecular-genetics/?utm_source=Molecular%2BGenetics%2BLaboratory&utm_medium=shortcut&utm_campaign=molecular-genetics |
| United States of America | SLC6A8 Sequencing GAMT Sequencing + Deletion/Duplication GATM Sequencing + Deletion/Duplication Creatine Panel Creatine and Guandinoacetate Determination (both urine and plasma testing available) | Molecular Lab | Baylor Miraca Genetics Laboratories | Houston | TX | +1-800411GENE | http://www.bmgl.com |
| United States of America | Biochemical tests (creatine and GAA urine),SLC6A8, GAMT and GATM Sequencing, Comprehensive and Actionable Epilepsy, Comprehensive Intellectual Disability | Molecular Lab | MNG Laboratories | Atlanta | GA | +1-6782250222 | http://www.mnglabs.com/ |
| United States of America | Biochemical Creatine Disorders Panels, SLC6A8 Sequencing Test, SLC6A8 Mutation Analysis Test | Biochemical and Molecular Lab | ARUP Laboratories | Salt Lake City | UT | +1-8018422787 | http://www.aruplab.com/genetics |
| United States of America | SLC6A8, GATM, GAMT Next Gen sequencing | Molecular Lab | Ambry Genetics Corp. | Aliso Viejo | CA | +1-9499005500 | http://www.ambrygen.com/ |
| United States of America | SLC6A8 Sequencing Test, X-Linked Intellectual Disability Panels, SLC6A8 Deletion/Duplication Test, | Molecular Lab | GeneDx | Gaithersburg | MD | +1-3015192100 | http://www.genedx.com/ |
| United States of America | Biochemical Creatine Disorders Panel Tests | Biochemical and Molecular Lab | University of Rochester Medical Center - Strong Memorial Hospital | Rochester | NY | +1-5852732229 | https://www.urmc.rochester.edu/pathology-labs/clinical/molecular-diagnostics.aspx |
| United States of America | Biochemical Creatine Disorders Panel Tests | Biochemical and Molecular Lab | PathGroup | Brentwood | TN | +1-8003665847 | http://www.pathgroup.com/ |
| United States of America | Biochemical Creatine Disorders Panel Tests | Biochemical and Molecular Lab | TriCore Reference Laboratories | Albuquerque | NM | +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.