Brown/Green

Light Brown

188

100

B Rh+

-

Caucasian, Czech, German, Italian, Polish

No

B.A. Finance and Management / Sales Account Executive

No

Counsyl Foresight Panel (at least 175 conditions)

A lab called Igenomix offers custom carrier screening to patients in the UK, called Carrier Genetic Test, Synchronized (CGT SYNC). Igenomix will custom design the carrier screening panel to confirm your compatibility with a specific donor. Please simply click on this link and select “CTG” as the service in the dropdown menu to request information. A genetic counselor from Igenomix will reach out to you with additional information. Or you can email the Igenomix genetic counselors at [email protected] if you would like to proceed with the CGT Sync testing or have any questions. This is not a mandated requirement, and is fully at the discretion of the patient to utilize this service, or not.

• Carrier For
  • Cystic Fibrosis : Carrier
  • Glycogen Storage Disease Type II : Carrier

• 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
  • 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
  • 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 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
  • 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
  • Hermansky-Pudlak Syndrome (HPS6-related)
  • Methylmalonyl-CoA Epimerase Deficiency
  • Spinal Muscular Atrophy With Respiratory Distress 1 / Charcot-Marie-To
  • Nephrotic Syndrome (NPHS2-Related) / Steroid-Resistant Nephrotic Syndr
  • GDF5-related Conditions (GDF5)