• Eyes: Blue/Green
• Hair: Light Brown
• Height: 6'00"
• Weight (lbs): 165
• Blood: B Rh+
• CMV: -
• Ethnicity: Caucasian, Italian, Welsh
• Jewish Ancestry: No
• Education/Occupation: B.A. Business Management and Marketing / Regional Sales Manager
• Live Birth / Pregnancy Confirmed: No

Test Results

• Extended Testing: Yes
• Carrier For:
  • No disease causing mutations detected
• Results for Karyotyping / Spinal Muscular Atrophy:
  • Spinal Muscular Atrophy: Copy number 2
• Results with No Disease Causing Mutations: View full list
  • Karyotyping
  • Cystic Fibrosis
  • ABCC8-related Hyperinsulinism
  • Alpha Thalassemia
  • Autosomal Recessive Polycystic Kidney Disease
  • Bloom Syndrome
  • Canavan Disease
  • Familial Dysautonomia
  • Fanconi Anemia Type C
  • Gaucher Disease
  • Glycogen Storage Disease Type Ia
  • Hb Beta Chain-related Hemoglobinopathy (including Beta Thalassemia And Sickle Cell Disease)
  • Hexosaminidase A Deficiency (including Tay-Sachs Disease)
  • Joubert Syndrome 2
  • Maple Syrup Urine Disease Type 1B
  • Mucolipidosis IV
  • NEB-related Nemaline Myopathy
  • Niemann-Pick Disease, SMPD1-associated
  • Usher Syndrome Type 1F
  • Usher Syndrome Type 3
  • Walker-Warburg Syndrome
  • Fanconi Anemia Complementation Group A