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

Pulmonology

  • Cystic Fibrosis
  • Ciliopathies
  • Other inherited respiratory diseases

Hematology/Oncology

  • Sickle cell anemia, thalassemias
  • Neutropenia
  • Thrombocytopenia
  • Coagulopathies
  • Hereditary pediatric onset cancer syndromes

Neurology

  • Hereditary seizures
  • Intellectual disabilities
  • Autism Spectrum Disorders
  • Progressive neurologic disease
  • Muscular dystrophy
  • Neurofibromatosis type 1, and other RASopathies

Cardiology

  • Congenital heart disease
  • Hereditable cardiomyopathy
  • Hereditable arrhythmias
  • Connective tissue disorders

Plastic Surgery

  • Cleft lip and palate
  • Congenital hand, feet and limb differences

Gastroenterology

  • Patients with failure to thrive, or significant problems gaining or losing weight
  • Patients with hereditary liver problems

Endocrinology

  • Differences/disorders of sexual development
  • Klinefelter and other sex chromosome aneuploidies
  • Hereditary obesity

Orthopaedics

  • Osteogenesis Imperfecta, also known as brittle bone disease
  • Short stature
  • Hemihypertrophy

Ophthalmology

  • Anomalies of the eyes such as a missing eye
  • Hereditary blindness

Ear, Nose and Throat (Otolaryngology)

  • Cleft lip and palate
  • Hearing loss

Nephrology

  • Polycystic kidney disease
  • Focal Segmental glomerulosclerosis (FSGS)
  • Fabry and other genetic conditions which can impact kidney development
 
Chloe Dugger, MS, LCGC
Genetic Counselor
 
Hafsah Jamil, MS, LGC
Genetic Counselor
 
Jamy Hathcoat, MS, LCGC
Genetic Counselor
Resid
Jason Carmichael, MS, LCGC
Genetic Counselor
 
Kady Murphy, MS, LCGC
Genetic Counselor
 
Kaylee Ruiz, MS, LGC
Genetic Counselor
 
Rebecca Freeman, 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: