Green

Brown

196

95

A Rh+

-

Caucasian, German, Lebanese, Scottish

No

B.A. Business / Student

Yes

Counsyl Universal Panel minus x-linked conditions (at least 102 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
  • 21-hydroxylase Deficient Congenital Adrenal Hyperplasia : Carrier
  • Autosomal Recessive Primary Microcephaly 8 : 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
  • Achromatopsia
  • Alkaptonuria
  • Alpha-1 Antitrypsin Deficiency
  • Alpha-mannosidosis
  • Alpha Thalassemia
  • Andermann Syndrome
  • 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
  • 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
  • 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
  • Limb-girdle Muscular Dystrophy Type 2D
  • Limb-girdle Muscular Dystrophy Type 2E
  • Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
  • 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
  • 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
  • COL4A3-related Alport Syndrome
  • USH2A-related Disorders
  • Nephrotic Syndrome (NPHS2-Related) / Steroid-Resistant Nephrotic Syndr