60 Items
Genetic and Carrier Screening
Genetic insights today, healthier generations tomorrow
Are you planning to start or grow your family?
Genetic and carrier screening provides essential insights into your genetic health, helping you make informed decisions to protect your future children’s well-being.
Our comprehensive genetic and carrier screening test gives you the knowledge you need to take proactive steps toward a healthier family.
Many genetic conditions are inherited even if you don’t have symptoms.
Carrier screening identifies whether you or your partner carry gene variants linked to inherited conditions. If both parents carry the same variant, there is:
- A 25% chance the child will inherit the condition
- A 50% chance the child will be a carrier (like their parents)
- A 25% chance the child will not inherit or carry the gene variant
What are gene variants?
Genetic screening further helps assess potential health risks, offering a holistic understanding of your genetic profile. Blueprint of Life™ empowers you with the knowledge to make informed reproductive choices, reducing health risks for your children.
With clear, actionable insights, you can explore options and make decisions with confidence.
Blood Disorders (6 Items)
- Alpha Thalassemia (α Thalassemia)
- Beta Thalassemia (β Thalassemia)
- Sickle Cell Disease
- Hemophilia A
- Hemophilia B
- G6PD Deficiency
Bone & Connective Tissue Disorders (4 Items)
- Osteogenesis Imperfecta Type I
- Osteogenesis Imperfecta Type II
- Rhizomelic Chondrodysplasia Punctata Type I
- Marfan Syndrome
Endocrine & Metabolic Disorders (26 Items)
- Maple Syrup Urine Disease Type Ia
- Maple Syrup Urine Disease Type Ib
- Maple Syrup Urine Disease Type II
- Phenylketonuria
- Tyrosinemia Type I
- Tyrosinemia Type II
- Spermidine/Spermine N-Acetyltransferase Deficiency
- Citrullinemia
- Biotinidase Deficiency
- Multiple Carboxylase Deficiency
- Smith-Lemli-Opitz Syndrome
- Mucopolysaccharidosis Type I (Hurler Syndrome)
- Congenital Adrenal Hyperplasia – 21-Hydroxylase Deficiency
- Methylmalonic Acidemia – MUT Type
- Propionic Acidemia – PCCA Type
- Propionic Acidemia – PCCB Type
- Isovaleric Acidemia
- Galactosemia
- Glycogen Storage Disease Type 1A
- Pompe Disease (Glycogen Storage Disease Type II)
- Wilson’s Disease
- Medium-Chain Acyl-CoA Dehydrogenase Deficiency
- Short-Chain Acyl-CoA Dehydrogenase Deficiency
- Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
- Primary Carnitine Deficiency
- Carnitine Palmitoyltransferase Deficiency Type I
- Carnitine Palmitoyltransferase Deficiency Type II
Neurological & Muscular Disorders (11 Items)
- Metachromatic Leukodystrophy
- Tay-Sachs Disease
- Gaucher Disease (GBA)
- Glutaric Acidemia/Aciduria Type I
- Glutaric Acidemia/Aciduria Type II
- Fabry Disease
- Bulbar Spinal Muscular Atrophy
- Spinal Muscular Atrophy
- Duchenne Muscular Dystrophy
- Neurofibromatosis Type I
- Tuberous Sclerosis Type I
Thyroid Disorders (6 Items)
- Congenital Thyroid Hormone Synthesis Defect
- Congenital Hypothyroidism Type I
- Thyroid Peroxidase Deficiency
- Congenital Hypothyroidism Type IV
- Congenital Hypothyroidism Type VI
- Pendred Syndrome
Other Genetic Disorders (7 Items)
- Familial Adenomatous Polyposis – APC Type
- Familial Adenomatous Polyposis – MUTYH Type
- Congenital Hearing Loss
- Cystic Fibrosis
- Autosomal Recessive Polycystic Kidney Disease
- Zellweger Syndrome – PEX1 Type
- X-Linked Severe Combined Immunodeficiency
🛈
Are you interested in our genetic test?
Explore more about Blueprint of Life™,
Contact us for further inquiries
