Biochemical Genetics (Metabolics)

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Biochemical Geneticists perform and interpret biochemical analyses relevant to the diagnosis and management of human genetic diseases and and consult regarding laboratory diagnosis of a broad range of inherited disorders, including metabolic disorders. (from NUCC 207SG0202X, Clinical Biochemical genetics)

Service Legend
Local Service
Statewide Service: Provides online resources, telehealth, or service at a satellite office.
Nationwide Service: Provides online resources, telehealth or services at a regional/national headquarters location.
Organization Name: St. Luke's
(Show others in Organization)
Address:
305 E Jefferson St
Boise, ID 83712
Phone: 208-381-7339
Fax: 208-381-6186
Eligibility: Any age. Generally referred by a physician, but also accepts self-referrals.
Services Provided:

Patients with a variety of conditions, including, but not limited to:

  • Neurofibromatosis type 1 (NF1)
  • Williams syndrome
  • Smith-Magenis syndrome (SMS)
  • Ehlers-Danlos syndrome
  • Chromosomal duplications or deletions
  • Marfan syndrome
  • Organic acidemias, such as MMA
  • Phenylketonuria (PKU)
  • MCAD deficiency
  • Mitochondrial disorders
  • Carnitine or biotinidase deficiency
  • Rubenstein Taybi syndrome
Source: Idaho Careline 211
Last Updated: 12/23/2020
Nationwide Provider
Nationwide Provider
Address:
Services Provided:

Information about PKU, research, advocacy, and resources.

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Source: MHP-Nationwide
Last Updated: 8/19/2020