Each year, many unsuspecting couples are at risk for conceiving a child with a serious genetic disease, such as cystic fibrosis, spinal muscular atrophy, fragile X, or Tay-Sachs disease. Having healthy children does not exclude both parents being carriers of the same genetic disease.

 

While these diseases cannot be cured, with the Universal Genetic Test offers knowledge that can enable prevention. The test should be offered to both men and women at the same time. It tests for common diseases across ethnic groups.

 

ABCC8-Related Hyperinsulinism

Achromatopsia

Alkaptonuria

Alpha-1 Antitrypsin Deficiency

Alpha-Mannosidosis

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

Beta Thalassemia 

Biotinidase Deficiency

Bloom Syndrome 

Canavan Disease  

Carnitine Palmitoyltransferase IA Deficiency

Carnitine Palmitoyltransferase II Deficiency

Cartilage-Hair Hypoplasia

Choroideremia

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

Cystic Fibrosis  

Cystinosis

D-Bifunctional Protein Deficiency

Factor XI Deficiency

Familial Dysautonomia  

Familial Mediterranean Fever

Fanconi Anemia Type C 

**Fragile X Syndrome

Galactosemia

Gaucher Disease 

GJB2-Related DFNB 1 Nonsyndromic Hearing Loss and Deafness

Glutaric Acidemia Type 1

Glycogen Storage Disease Type Ia

Glycogen Storage Disease Type Ib

Glycogen Storage Disease Type III

Glycogen Storage Disease Type V

Gracile Syndrome

Hereditary Fructose Intolerance

Hereditary Thymine-Uraciluria

Herlitz Junctional Epidermolysis Bullosa, LAMA3-Related

Herlitz Junctional Epidermolysis Bullosa, LAMB3-Related

Herlitz Junctional Epidermolysis Bullosa, LAMC2-Related

Hexosaminidase A Deficiency

Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

Hurler Syndrome

Hypophosphatasia, Autosomal Recessive

Inclusion Body Myopathy 2

Isovaleric Acidemia

Joubert Syndrome 2

Krabbe Disease

Limb-Girdle Muscular Dystrophy Type 2D

Limb-Girdle Muscular Dystrophy Type 2E

Lipoamide Dehydrogenase Deficiency

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 

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

Pompe Disease

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

Sickle Cell Disease 

Sjogren-Larsson Syndrome

Smith-Lemli-Opitz Syndrome

Spinal Muscular Atrophy 

Steroid-Resistant Nephrotic Syndrome

Sulfate Transporter-Related Osteochondrodysplasia

Tay-Sachs Disease  

TPP1-Related Neuronal Ceroid Lipofuscinosis

Tyrosinemia Type I

Usher Syndrome Type 1F

Usher Syndrome Type 3

Very Long Chain Acyl-CoA Dehydrogenase Deficiency

Wilson Disease

X-Linked Juvenile Retinoschisis

 

* Prothrombin, Factor V Leiden, MTHFR Deficiency, HFE-Associated Hereditary Hemochromatosis and Glucose-6-Phosphate Dehydrogenase Deficiency are not part of the Universal Genetic Test routinely ordered by PCG/Counsyl Australia.

** Not available via Counsyl Australia. Requires a separate blood sample to be done locally.