• Eyes: Brown
• Hair: Black
• Height: 5'09"
• Weight (lbs): 169
• Blood: AB Rh+
• CMV: -
• Ethnicity: Asian, East Indian
• Jewish Ancestry: No
• Education/Occupation: Chemical Engineering / Student
• Live Birth / Pregnancy Confirmed: No

Test Results

• Extended Testing: Counsyl Foresight Panel (at least 175 conditions)
• Carrier For:
  • No disease causing mutations detected
• Results for Karyotyping / Spinal Muscular Atrophy:
  • Spinal Muscular Atrophy: No disease causing mutations detectedative result: No disease causing mutations detectedative for g.27134T>G SNP and SMN1: 2 copies.
• Results with No Disease Causing Mutations: View full list
  • Karyotyping
  • Cystic Fibrosis
  • Adenosine Deaminase Deficiency
  • ABCC8-related Hyperinsulinism
  • Alpha-mannosidosis
  • Alpha Thalassemia
  • Andermann Syndrome
  • Argininosuccinic Aciduria
  • ARSACS
  • Aspartylglycosaminuria
  • Ataxia With Vitamin E Deficiency
  • Ataxia-telangiectasia
  • Autosomal Recessive Polycystic Kidney Disease
  • 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
  • Dihydrolipoamide Dehydrogenase 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
  • GRACILE Syndrome
  • Hb Beta Chain-related Hemoglobinopathy (including Beta Thalassemia And Sickle Cell Disease)
  • Hereditary Fructose Intolerance
  • HMG-CoA Lyase Deficiency
  • 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
  • Hurler Syndrome
  • Hypophosphatasia, Autosomal Recessive
  • Inclusion Body Myopathy 2
  • Isovaleric Acidemia
  • Joubert Syndrome 2
  • Junctional Epidermolysis Bullosa, LAMA3-related
  • Krabbe Disease
  • Limb-girdle Muscular Dystrophy Type 2D
  • Limb-girdle Muscular Dystrophy Type 2E
  • Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
  • Maple Syrup Urine Disease Type 1A
  • Maple Syrup Urine Disease Type 1B
  • Medium Chain Acyl-CoA Dehydrogenase Deficiency
  • Megalencephalic Leukoencephalopathy With Subcortical Cysts
  • Metachromatic Leukodystrophy
  • Methylmalonic Acidemia MUT-related
  • Methylmalonic Aciduria And Homocystinuria Type CbIC
  • 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
  • Pycnodysostosis
  • Rhizomelic Chondrodysplasia Punctata Type 1
  • Salla Disease
  • Sandhoff 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 1F
  • Usher Syndrome Type 3
  • Very Long Chain Acyl-CoA Dehydrogenase Deficiency
  • Walker-Warburg Syndrome
  • Wilson Disease
  • Maple Syrup Urine Disease Type II
  • 6-pyruvoyl-tetrahydropterin Synthase Deficiency
  • 11-beta-hydroxylase-deficient Congenital Adrenal Hyperplasia
  • Alstrom Syndrome
  • AMT-related Glycine Encephalopathy
  • Argininemia
  • ATP7A-related Disorders
  • Autosomal Recessive Osteopetrosis Type 1
  • Bardet-Biedl Syndrome, BBS12-related
  • Bardet-Biedl Syndrome, BBS2-related
  • Calpainopathy
  • Carbamoylphosphate Synthetase I Deficiency
  • Cerebrotendinous Xanthomatosis
  • CLN6-related Neuronal Ceroid Lipofuscinosis
  • COL4A3-related Alport Syndrome
  • COL4A4-related Alport Syndrome
  • Congenital Disorder Of Glycosylation Type Ic
  • Delta-sarcoglycanopathy
  • Dysferlinopathy
  • Dystrophinopathy (including Duchenne/Becker Muscular Dystrophy)
  • ERCC6-related Disorders
  • ERCC8-related Disorders
  • EVC-related Ellis-van Creveld Syndrome
  • EVC2-related Ellis-van Creveld Syndrome
  • Fabry Disease
  • Fanconi Anemia Complementation Group A
  • FKRP-related Disorders
  • Galactokinase Deficiency
  • Gamma-sarcoglycanopathy
  • GLB1-related Disorders
  • GLDC-related Glycine Encephalopathy
  • GNPTAB-related Disorders
  • Holocarboxylase Synthetase Deficiency
  • Hydrolethalus Syndrome
  • KCNJ11-related Familial Hyperinsulinism
  • LAMA2-related Muscular Dystrophy
  • Leigh Syndrome, French-Canadian Type
  • Lipoid Congenital Adrenal Hyperplasia
  • Lysosomal Acid Lipase Deficiency
  • Methylmalonic Acidemia, CblA Type
  • Methylmalonic Acidemia, CblB Type
  • MKS1-related Disorders
  • Mucolipidosis III Gamma
  • Mucopolysaccharidosis Type II
  • Mucopolysaccharidosis Type IIIA
  • Mucopolysaccharidosis Type IIIB
  • Mucopolysaccharidosis Type IIIC
  • MYO7A-related Disorders
  • Niemann-Pick Disease Type C2
  • Ornithine Transcarbamylase Deficiency
  • PCCA-related Propionic Acidemia
  • PCCB-related Propionic Acidemia
  • Peroxisome Biogenesis Disorder Type 3
  • Peroxisome Biogenesis Disorder Type 4
  • Peroxisome Biogenesis Disorder Type 5
  • Peroxisome Biogenesis Disorder Type 6
  • Primary Hyperoxaluria Type 3
  • Pyruvate Carboxylase Deficiency
  • RTEL1-related Disorders
  • Spastic Paraplegia Type 15
  • Spondylothoracic Dysostosis
  • TGM1-related Autosomal Recessive Congenital Ichthyosis
  • Tyrosinemia Type II
  • USH1C-related Disorders
  • USH2A-related Disorders
  • X-linked Adrenoleukodystrophy
  • X-linked Alport Syndrome
  • X-linked Congenital Adrenal Hypoplasia
  • X-linked Juvenile Retinoschisis
  • X-linked Myotubular Myopathy
  • X-linked Severe Combined Immunodeficiency
  • Xeroderma Pigmentosum Group A
  • Xeroderma Pigmentosum Group C
  • Nephrotic Syndrome (NPHS2-Related)