directory

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

pregnant woman and genetics
Source: National Human
Genome Research Institute

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:

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

 

Medical and Community Resource Guides for Families who have a Genetic Diagnosis

helping hands
 

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.

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:

Resource: kcnq2cure.org/kcnq2-epilepsy

KCNQ3

Registry: rikee.org

MBD5

Resource: 2q23.org

MECP2

Registry: rett.telethonkids.org.au

Resource: rettsyndrome.org

MFSD8

Resources:

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

Authored By: 
Geoffrey Beek MS, CGC
Authored Date: 
12/2019
Reviewed By: 
Beth Rosen Sheidley MS, CGC
Annapurna Poduri MD, MPH
Elaine Kiriakopoulos MD, MSc
Elaine Wirrell MD
on: 
Tuesday, December 31, 2019