Genetic Medicine and Metabolism
The Medical Genetics and Metabolism department offers comprehensive services to children with suspected genetic conditions. We are often asked what a genetic condition is – to put it simply, a genetic condition is any type of medical condition caused by changes in the DNA. Sometimes these conditions are hereditary, and sometimes they are not. We are one of the largest medical genetics providers in the Central Valley, providing services to families across the state.
Our services include comprehensive physical exams, analysis of family history, genetic testing and genetic counseling. We provide both in-person and telemedicine consultations and review inheritance, prognosis and treatment, when available, for people diagnosed with genetic conditions. Our team includes board-certified and board-eligible physician geneticists, licensed and certified genetic counselors, nurse coordinators, as well as a metabolic dietitian and social worker.
We are certified as a California Children’s Services (CCS) Metabolic Treatment Center for the CA Newborn Screening Program. Our team works with reproductive medicine as part of the prenatal diagnostic center care team at Valley Children’s Maternal Fetal Center. Our physician services are available 24 hours a day, 7 days a week.
Comprehensive Physical Exams
- Including dysmorphology evaluation
Genetic Counseling
- Including a detailed family history and evaluation of possible hereditary health risks
- Explanation of available genetic tests, and the benefits and limitations of testing
- Review of results and emotional support throughout the testing process
- Identifying at-risk family members and facilitating testing
Genetic Testing Services
- While genetic testing is not recommended for every patient, we work with a large variety of high-quality, advanced genetic testing laboratories across the country, to ensure our patients receive the best possible care and access to testing
- We routinely order and facilitate the following:
- Biochemical, metabolic testing
- Karyotype and Fluorescence in situ hybridization (FISH)
- Methylation analysis
- Chromosomal microarray
- Single-gene and panel testing
- Targeting familiar mutation testing
- Whole exome sequencing also known as whole genome sequencing
- RNA or "transcriptome" analysis
Inborn Errors of Metabolism
- California Children’s Services (CCS) Metabolic Treatment Center:
- Phenylketonuria
- Galactosemia
- Fatty acid oxidation defects
- Lysosomal storage disorders
- Organic acidemias
- Urea cycle disorders
- Mitochondrial disease
- We are a newborn screening (NBS) area service center
Reproductive medicine
- Coordination of diagnostic procedures (amniocentesis and chorionic villus sampling CVS)
- Genetic counseling
- Prenatal genetic testing including carrier screening and cell-free fetal DNA testing
- Nuchal translucency
- Detailed fetal ultrasound
- Fetal echocardiography
- We are a California State Prenatal Diagnosis Center with three locations in Madera, Merced and Visalia
- Cystic Fibrosis
- Ciliopathies
- Other inherited respiratory diseases
- Sickle cell anemia, thalassemias
- Neutropenia
- Thrombocytopenia
- Coagulopathies
- Hereditary pediatric onset cancer syndromes
- Hereditary seizures
- Intellectual disabilities
- Autism Spectrum Disorders
- Progressive neurologic disease
- Muscular dystrophy
- Neurofibromatosis type 1, and other RASopathies
- Congenital heart disease
- Hereditable cardiomyopathy
- Hereditable arrhythmias
- Connective tissue disorders
- Cleft lip and palate
- Congenital hand, feet and limb differences
- Patients with failure to thrive, or significant problems gaining or losing weight
- Patients with hereditary liver problems
- Differences/disorders of sexual development
- Klinefelter and other sex chromosome aneuploidies
- Hereditary obesity
- Osteogenesis Imperfecta, also known as brittle bone disease
- Short stature
- Hemihypertrophy
- Anomalies of the eyes such as a missing eye
- Hereditary blindness
- Cleft lip and palate
- Hearing loss
- Polycystic kidney disease
- Focal Segmental glomerulosclerosis (FSGS)
- Fabry and other genetic conditions which can impact kidney development
|
Mark Nunes, MD
Medical Director
|
David Dimmock, MD
|
Balram Gangaram, MD
|
|
Richard Sidlow, MD
|
Susan Winter, MD
|
Jeremy Woods, MD
|
|
Jason Carmichael, MS, LCGC
Genetic Counselor
|
Aimiel Casillan, MS, LCGC
Genetic Counselor
|
Lisa Daniels, MS
Genetic Counselor
|
|
Jamy Hathcoat, MS, LCGC
Genetic Counselor
|
Liann Jimmons, MS, LCGC
Genetic Counselor
|
Chris Miller, MS, LCGC
Genetic Counselor
|
|
Kady Murphy, MS, LCGC
Genetic Counselor
|
Adriana Noronha, MS, LCGC
Genetic Counselor
|
Lily Radanovich, MS, LCGC
Genetic Counselor
|
|
Lynsey Rodriguez, MS, LCGC
Genetic Counselor
|
|
|
Thank you for choosing Valley Children’s as a partner in your patient’s care. We will work hand-in-hand with you to ensure your patient is provided with consistent and comprehensive care.
Valley Children’s Hospital - Main Campus
9300 Valley Children’s Place
Madera, CA 93636
Main: 559-353-5941
Fax: 559-353-5945
Access Center
24/7 access for referring physicians only
866-353-KIDS (5437)
Outpatient Referral
Referral forms online at
valleychildrens.org/refer
Fax: 559-353-8888
Referral Guide
Patient referrals go more smoothly when they are accompanied by the necessary test results and documentation. View pre-referral work-up instructions with the following guide: