Genetics

REGISTRATION IS NOW OPEN!

7th Annual Rare Disease Genomics Symposium — Informatics Application in Rare Diseases

Friday, February 21, 2020 • 8:00 a.m.– 3:30 p.m
Bradley Lecture Center • 4th Floor, Children's Harbor Building
1600 7th Avenue South • Birmingham, Alabama

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Register Online Here

The UAB Department of Genetics offers comprehensive genetic services for children and adults and we offer comprehensive prenatal services. Pediatric Genetics clinics are located on the sixth floor of the Dearth Tower in the McWane Building.

The UAB Undiagnosed Diseases Program (UDP) seeks to meet the needs of patients with severe chronic medical conditions for whom a diagnosis has not been made. The UDP team is led by four UAB Medicine faculty physicians and also includes a certified genetic counselor and two clinical nurse coordinators. UAB physicians from various medical and pediatric subspecialties serve as consultants and provide their expertise in each case as necessary. Additional information (PDF).

Contact Us

To make and appointment for any clinic, please call 205-934-4983. Our FAX number is 205-975-6389.

Whole Genome Sequencing (WGS) Application
Fax | 205-975-6613. Program Coordinator Amber Samuelson, R.N.

We also offer specialty clinics for:

• Prenatal Genetics
• Adult and Pediatric Cancer Genetics
• Neurofibromatosis
• Tuberous Sclerosis
• General Adult Genetics
• Adult Metabolic Diseases
• Cleft and Craniofacial Genetics
• Inherited Metabolic Diseases
• Adult and Pediatric Cardiovascular Genetics, including Marfan Syndrome
• Metabolic Bone Clinic
• Turner Syndrome Clinic

Clinical Laboratory Services Include:

• Cytogenetics
• Biochemical Genetics
• Molecular Genetics

A list of common indications for referral to a geneticist include:

• Abnormal newborn screen for inherited disorder of metabolism
• Single or multiple birth defects (eg, congenital heart defect, orofacial cleft, facial dysmorphism, multiple/unusal birthmarks)
• Developmental Delay and/or Autism
• Hearing Loss (congenital)
• Short stature
• Family History of Genetic Disorder
• Known of suspected disease with a genetic cause

Physicians

Joy Dean, MD
Maria Descartes, MD
Anna Hurst, MD, MS
Bruce Korf, MD, PhD
Nathaniel H. Robin, MD

Genetic Counselors

Fallon Brewer, MS, CGC
Ashley Cannon, PhD, MS, CGC
Jessica Davidson, MS, CGC
Meagan Farmer, MS, CGC
Dana Goodloe, MPH, MS, CGC
Amanda Luedecke, MS, CGC
Natasha Rudy, MS, CGC
Kirstin Smith, MS, CGC
Jacynda Woodman-Ross, MS, CGC