• Eyes: Brown
• Hair: Dark Brown
• Height: 5'10"
• Weight (lbs): 150
• Blood: O Rh-
• CMV: -
• Ethnicity: Caucasian, French, German, Scandinavian, Scots-Irish, Spanish
• Jewish Ancestry: No
• Education/Occupation: BA English and Theatre / Book seller
• Live Birth / Pregnancy Confirmed: Yes
• Informed Consent Form

Test Results

• Extended Testing: Counsyl Universal Panel minus x-linked conditions (at least 102 conditions)
• Carrier For:
  • Achromatopsia: Carrier
  • Nephrotic Syndrome (NPHS2-Related): Carrier
• 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
  • Alkaptonuria
  • Alpha-1 Antitrypsin Deficiency
  • Alpha-mannosidosis
  • Alpha Thalassemia
  • Andermann Syndrome
  • ARSACS
  • Aspartylglycosaminuria
  • Ataxia With Vitamin E Deficiency
  • Ataxia-telangiectasia
  • Bardet-Biedl Syndrome, BBS1-related
  • Bardet-Biedl Syndrome, BBS10-related
  • Biotinidase Deficiency
  • Bloom Syndrome
  • Canavan Disease
  • Carnitine Palmitoyltransferase IA Deficiency
  • Carnitine Palmitoyltransferase II Deficiency
  • Cartilage-hair Hypoplasia
  • Citrullinemia Type 1
  • CLN3-related Neuronal Ceroid Lipofuscinosis
  • CLN5-related Neuronal Ceroid Lipofuscinosis
  • Cohen Syndrome
  • 21-hydroxylase Deficient Congenital Adrenal Hyperplasia
  • Congenital Disorder Of Glycosylation Type Ia
  • Congenital Disorder Of Glycosylation Type Ib
  • Congenital Finnish Nephrosis
  • Costeff Optic Atrophy Syndrome
  • Cystinosis
  • D-bifunctional Protein Deficiency
  • Dihydropyrimidine Dehydrogenase Deficiency
  • Factor XI Deficiency
  • Familial Dysautonomia
  • Familial Mediterranean Fever
  • Fanconi Anemia Type C
  • Galactosemia
  • Gaucher Disease
  • GJB2-related DFNB1 Nonsyndromic Hearing Loss And Deafness
  • Glutaric Acidemia Type 1
  • Glycogen Storage Disease Type Ia
  • Glycogen Storage Disease Type Ib
  • Glycogen Storage Disease Type II
  • Glycogen Storage Disease Type III
  • Glycogen Storage Disease Type V
  • GRACILE Syndrome
  • Hb Beta Chain-related Hemoglobinopathy (including Beta Thalassemia And Sickle Cell Disease)
  • Hereditary Fructose Intolerance
  • Herlitz Junctional Epidermolysis Bullosa, LAMB3-related
  • Herlitz Junctional Epidermolysis Bullosa, LAMC2-related
  • Hexosaminidase A Deficiency (including Tay-Sachs Disease)
  • Homocystinuria Caused By Cystathionine Beta-synthase Deficiency
  • Hypophosphatasia, Autosomal Recessive
  • Inclusion Body Myopathy 2
  • Isovaleric Acidemia
  • Joubert Syndrome 2
  • Junctional Epidermolysis Bullosa, LAMA3-related
  • Krabbe Disease
  • Maple Syrup Urine Disease Type 1B
  • Medium Chain Acyl-CoA Dehydrogenase Deficiency
  • Megalencephalic Leukoencephalopathy With Subcortical Cysts
  • Metachromatic Leukodystrophy
  • Mucolipidosis IV
  • Mucopolysaccharidosis Type I
  • Muscle-eye-brain Disease
  • NEB-related Nemaline Myopathy
  • Niemann-Pick Disease Type C
  • Niemann-Pick Disease, SMPD1-associated
  • Nijmegen Breakage Syndrome
  • Northern Epilepsy
  • Pendred Syndrome
  • PEX1-related Zellweger Syndrome Spectrum
  • Phenylalanine Hydroxylase Deficiency
  • Polyglandular Autoimmune Syndrome Type 1
  • PPT1-related Neuronal Ceroid Lipofuscinosis
  • Primary Carnitine Deficiency
  • Primary Hyperoxaluria Type 1
  • Primary Hyperoxaluria Type 2
  • PROP1-related Combined Pituitary Hormone Deficiency
  • Pseudocholinesterase Deficiency
  • Pycnodysostosis
  • Rhizomelic Chondrodysplasia Punctata Type 1
  • Salla Disease
  • Segawa Syndrome
  • Short Chain Acyl-CoA Dehydrogenase Deficiency
  • Sjogren-Larsson Syndrome
  • Smith-Lemli-Opitz Syndrome
  • Sulfate Transporter-related Osteochondrodysplasia (SLC26A2)
  • TPP1-related Neuronal Ceroid Lipofuscinosis
  • Tyrosinemia Type I
  • Usher Syndrome Type 3
  • Very Long Chain Acyl-CoA Dehydrogenase Deficiency
  • Wilson Disease