medical neurogenetics

Welcome

Medical Neurogenetics provides Molecular and Metabolic genetic testing and consultation for a variety of inherited disorders affecting children and adults.

Dr. John Shoffner and Dr. Keith Hyland have spent their careers focusing on neurogenetic diseases. Among their many clinical and research interests, Dr. Shoffner specializes in mitochondrial diseases and Dr. Hyland specializes in disorders affecting neurotransmitters.

Laboratory testing includes organic acid and amino acid analysis, cerebrospinal fluid neurochemistry studies, and complex biochemical and genetic analyses for mitochondrial disorders, fatty acid oxidation defects and many other disorders affecting cellular energetics.

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Test Request Forms
Licenses
CPT Codes and Billing

Online Payments

Shipping Address For Samples

5424 Glenridge Drive,
Atlanta, GA 30342
phone: 678-225-0222
fax: 678-225-0212

medical/scientific

PATIENT CLINICAL APPOINTMENTS

Maureen Starnes, CPNP has joined our group and will be scheduling appointments for routine follow up appointments. She has a special interest in patients with mitochondrial disease. Her experience is extensive and includes the neonatal intensive care unit and Pediatric Neurology (Emory Children’s Center). Appointments will allow us to follow patients, review testing and records, assess the patients relative to the diagnostic criteria for mitochondrial disease, obtain appropriate follow up testing, answer questions, and inform patients and families about our research progress with new medications for treatment of mitochondrial disease. Please contact our Scheduling team at 678-225-0222 or email them at scheduling@mnglab.com to schedule follow up appointments with Maureen Starnes, CPNP.

RESEARCH RECRUITMENT

Volunteers Needed for Gulf War Syndrome Study

We are conducting a Department of Defense-funded study to assess mitochondrial defects in veterans diagnosed with Gulf War Syndrome. Please see the information below for details and contact us if you would like to be a participant in this study.
Click here for more details.

NEWS

The Times News Article 9-20-2011: Family twice hit by disease hits back

Cobb Life Magazine Article 9-15-2011: Kennesaw mom, son perform concert to raise awareness for mitochondrial disease

Mitochondrial Diseases and Autism, WSB-TV 3-14-2011

Time Magazine Article "When Cells Stop Working"

TBS Storyline Video (Video & Audio)

announcements

Medical Neurogenetics was a proud sponsor of the Hope Flies: Catch the Cure fundraiser event.

Inaugural Event Raises More than $200,000 in the Quest for a Cure for Mitochondrial Disease.

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Medical Neurogenetics
Attending Group Picture.
Click for a larger view

Top 10 Most Significant Autism Research Achievements of 2009.

Research published by Medical Neurogenetics researchers in the Journal of Child Neurology was named in the Top 10 Most Significant Autism Research Achievements of 2009 by Autism Speaks.

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Seven of our research projects were presented at the 2010 American Academy of Neurology meeting in Toronto.

Presentations are available here.

NGS or NGS-PLUS™ Panel:		NGS	NGS-PLUS1™	NGS-PLUS2™	NGS-PLUS3™
Acceptable sample types:		blood, fibroblasts, or muscle	blood, fibroblasts, or muscle	fibroblasts or fibroblasts + blood	muscle or muscle + blood
NGS and Functional Assays:	NGS	x	x	x	x
	mtDNA Sequencing		x	x	x
	mtDNA Depletion		x	x	x
	mtDNA Deletion		x	x	x
	OxPhos Subunit Western Blot			x	x
	High Resolution Respirometry			x
	OxPhos Enzymology				x