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, Dr. Keith Hyland and Dr. John Sladky have spent their careers studying diseases of the nervous system. Among their many clinical and research interests, Dr. Shoffner specializes in mitochondrial diseases, Dr. Hyland specializes in disorders affecting neurotransmitters and Dr. Sladky, a recent addition to the practice, specializes in neuromuscular disorders.

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.

Quick Links

Test Request Forms
Licenses
CPT Codes and Billing (updated for 2013!)
Test Result Requests
CSF Neurotransmitter Tube Kit Requests

Online Payments

Shipping Address For Samples

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

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

Medical Neurogenetics Attending
2010 event - Group Picture.
Click for a larger view

medical/scientific

PATIENT CLINICAL APPOINTMENTS

Call today to schedule your appointment with our new physician, Dr. John T. Sladky. He has a special interest in patients with neuromuscular disorders. His experience is extensive and includes tenure as Chief of the division of Child Neurology at Emory University. Appointments will allow us to see patients, review testing and records, assess the patients relative to the diagnostic criteria for mitochondrial disease and other disorders, 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 scheduling@mnglab.com to schedule appointments with Dr. John T. Sladky.

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

Top 10 Most Significant Autism Research Achievements of 2009

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

New Tests Available!

Tests

1.		New COMPREHENSIVE Sequencing panels for Cellular Energetics and Metabolism, Neurological disorders, and Cardiology Order form

2.		Alpha-aminoadipic semialdehyde Analysis in CSF and Urine for pyridoxine-responsive seizures Order form

3.		Creatine/Guanidinoacetate Analysis for Disorders of Creatine Metabolism Order form

4.		Gene Deletion/Duplication Analyses (MLPAs) Order form

5.		Nerve Biopsy Test Request Order form

2012 Health-Care Heroes Awards

Dr. John Shoffner recognized as a Leader in Neurogenetics Disease Research;

Dr. Shoffner was a finalist in the Physician category for Atlanta Business Chronicle's 2012 Health-Care Heroes Awards

More details

Three of our research projects were presented at the 2012 American Academy of Neurology meeting in New Orleans.

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