Genetic Specialists (Geneticist or Genetic Counselor)
Medical Geneticist
To find a geneticist (a physician who specializes in genetics) near you, search for a clinic through the American College of Medical Genetics and Genomics.
Genetic Counselor
A genetic counselor has advanced training in medical genetics and counseling to interpret genetic test results and guide people seeking more information about inherited disease and genetic conditions. To find a genetic counselor near you, please visit the following websites:
- National Society of Genetic Counselors
- American Board of Genetic Counseling
- Canadian Association of Genetic Counsellors
Laboratories that Perform Genetic Testing
Search through the most current, comprehensive list of genetic testing laboratories in the National Center for Biotechnology Information, U.S. National Library of Medicine's
Some laboratories* include the following.
*Listing here does not imply endorsement or approval by the Epilepsy Foundation.
- Allele Diagnostics
- Ambry Genetics
- ARUP Laboratories
- Athena Diagnostics
- Baylor Medical Genetics Laboratories
- Blueprint Genetics
- CGC Genetics USA
- Children's Hospital of Los Angeles, Center for Personalized Medicine
- Children's Hospital of Philadelphia
- Cincinnati Children's Hospital Medical Center
- EGL Genetics (Emory)
- Fulgent Genetics
- GeneDx
- Greenwood Genetic Center
- Illumina Clinical Services Laboratory
- Impact Genetics
- Invitae Genetics
- Knight Diagnostic Laboratories
- Mayo Medical Laboratories
- MNG Laboratories
- Partners Healthcare Personalized Medicine
- PerkinElmer Genomics
- Phosphorus
- Prevention Genetics
- University of Chicago Genetic Services
- University of Oklahoma Health Sciences Center
Medical and Community Resource Guides for Families who have a Genetic Diagnosis
There are many resources for families who have a genetic diagnosis. For general information, please visit the websites listed below. Geneticists and genetic counselors can also serve as valuable guides in identifying resources for individuals and families.
- Citizens United for Research in Epilepsy (CURE)
- GeneReviews
- U.S. National Library of Medicine's Genetics Home Reference
- Unique
- Orphanet
- Online Mendelian Inheritance in Man
- National Organization for Rare Diseases
- ILAE Genetics Commission Blog
- Rare Epilepsy Network (REN)
Resource for Families who have Received a Genetic Diagnosis
Here are some gene-specific resources and patient registries.
AKD5A1
Registry and Resource: ssadh.net/about-the-disorder
ALDH7A1
Registries:
ALG13
Resource: lgsfoundation.org
ARX
Registry: infantilespasmsproject.org/index.php/about
ATP1A2, ATP1A3
Registry: ahckids.org/research/databases
Resources:
CACNA1H
Registry and Resource: cdkl5.com
CDKL5
Registry: cdkl5.com/cdkl5-international-registry-database
Resources:
CLN2, CLN3, CLN5, CLN6, CLN8, CTSD, DNAJC5
Resources:
DEPDC5
Resource: lgsfoundation.org
DNM1
Registry: foxg1research.org
Resource: foxg1.org
Dup15q
Resource: dup15q.org
EHMT1
Registry: kleefstrasyndrome.org/genida-digital-registry
Resource: kleefstrasyndrome.org
EPM2A
Resource: chelseashope.org
GABRB3
Resource: rarechromo.org
Fact Sheet: rarechromo.org/media/singlegeneinfo/Single Gene Disorder Guides/GRIN2A related syndrome QFN.pdf
GAMT
Registry: creatineinfo.org/patient-registry
Resource: creatineinfo.org/gamt
GATM
Registry: creatineinfo.org/patient-registry
Resource: creatineinfo.org/agat
GLRA1
Resource: movementdisorders.org/MDS/About/Movement-Disorder-Overviews/Myoclonus--Startle.htm
GRIN2A (and other glutamate receptor genes)
Registry: grin2b.com/grin-registry
Resources:
GRIN2B
Registry: grin2b.com/grin-registry
Resource:
KANSL1
Registry: genida.unistra.fr
Resources: kdvsfoundation.org
Fact Sheet: rarechromo.org/media/information/Chromosome 17/Koolen-De Vries Syndrome FTNW.pdf
KCNB1
Resource: kcnb1.org
KCNQ2
Registries:
- kcnq2cure.org/contact-registry
- rikee.org
- Email Dr. Helbig (CHOP) at helbig@email.chop.edu
Resource: kcnq2cure.org/kcnq2-epilepsy
KCNQ3
Registry: rikee.org
MBD5
Resource: 2q23.org
MECP2
Registry: rett.telethonkids.org.au
Resource: rettsyndrome.org
MFSD8
Resources:
- bdfa-uk.org.uk/variant-late-infantile-onset-ncls-cln5-cln6-cln7-and-cln8-diseases-others
- bdsra.org
- beyondbatten.org/about
MTOR
Resource: smithkingsmore.org
NGLY1
Registry: gracescience.org
Resource: ngly1.org
NHLRC1 (EMP2B)
Resource: chelseashope.org
PACS1
Resource: pacs1foundation.org
PCDH19
Registries:
Resources:
POLG
Registry: rarediseasesnetwork.org/cms/namdc
PPT1
Resources:
PURA
Resource: purasyndrome.org
SATB2
Resource: satb2gene.com
SCN1A
Registry: epilepsytreatmentdrugs.com/patient-registry.html
Resource: dravetfoundation.org
SCN2A
Registry and Resource: scn2a.org
SCN8A
Registry: scn8a.net
Resource: thecutesyndrome.com
SGCE
Registry: globaldystoniaregistry.org
Resource: dystonia-foundation.org
SLC2A1
Registry and Resource: g1dfoundation.org
SLC6A1
Registry and Resource: slc6a1connect.org
SLC35A2
Resource: cdgcare.com
SMC1A
Resources:
STXBP1
Registry: stxdisorders.org/support-stxbp1/registry
Resource: stxdisorders.org
SYNGAP1
Registry: bridgesyngap.org
Resource:
TBC1D24
Registry: tbc1d24.org/home
Resource: tbc1d24.org/families
TCF4
Registry: chromosome18.org/Home/tabid/55/Default.aspx
Resource: pitthopkins.org
TSC1, TSC2
Registry: tsalliance.org
Resources:
UBE3A
Resources:
WDR45
Registry: nbiadisorders.org/research/patient-registry
Resource: nbiadisorders.org
ZEB2
Registry: mowat-wilson.org/new-diagnosis/registry
Resource: mowat-wilson.org
