Carrier Status DNA Insight
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How our genetic test can help
Carrier DNA Insight® is a comprehensive preconception and prenatal carrier screening test. Carrier DNA Insight® follows the American College of Obstetricians and Gynecologists (ACOG) recommendations, and screen patients for more than 120 recessive genetic diseases.
Carrier DNA Insight® provides physicians with information about the risks of inherited diseases of their patients’ future children.
Clinical Implementation for Patients
With Carrier DNA Insight®, patients can gain knowledge on their risks of passing inheritable genetic diseases to their children or future children. A more comprehensive assessment can be obtained if both parents are tested.
Who is this for?
Carrier DNA Insight® is for individuals who want to find out if they are at an increased risk of passing an inheritable disease to their children or future children. Individuals in certain ethnic groups or with a family history of genetic diseases may also benefit from carrier DNA Insight® testing.
ACOG-Recommended Conditions
- Beta-thalassemia
- Canavan disease
- Cystic fibrosis
- Familial dysautonomia
- Sickle cell disease
- Tay-Sachs disease
Ashkenazi Jewish Conditions
- Bloom syndrome
- Canavan disease
- Cystic fibrosis
- Dihydropyrimidine dehydrogenase deficiency
- Factor XI deficiency
- Familial dysautonomia
- Fanconi anemia
- Gaucher disease
- Glycogen storage disease, type 1A
- Maple syrup urine disease
- Mucolipidosis IV
- Niemann-Pick disease
- Tay-Sachs disease
- Tyrosinemia
- Usher syndrome, type 1F
Additional Conditions
- 21-Hydroxylase-deficient congenital adrenal hyperplasia
- 3-Methylcrotonyl-CoA carboxylase deficiency
- Achromatopsia
- Acrodermatitis enteropathica
- Alkaptonuria
- Alpha-1 antitrypsin deficiency
- Alpha-mannosidosis
- Amyotrophic lateral sclerosis
- Andermann syndrome
- Argininosuccinate lyase deficiency
- ARSACS
- Aspartylglucosaminuria
- Ataxia with vitamin E deficiency
- Ataxia-telangiectasia
- Autoimmune polyglandular syndrome, type I
- Bardet-Biedl syndrome, BBS1-related
- Bartter syndrome type 4A
- Beta-ketothiolase deficiency
- Biotinidase deficiency
- Carnitine deficiency, primary systemic
- Carnitine palmitoyltransferase II deficiency
- Cartilage-hair hypoplasia
- Cerebrotendinous xanthomatosis
- Choroideremia
- Citrullinemia, type I
- Cohen syndrome
- Combined pituitary hormone deficiency, PROP1-related
- Congenital disorder of glycosylation type Ia
- Costeff optic atrophy syndrome
- Crigler-Najjar syndrome
- Cystinosis
- Diabetes, permanent neonatal
- Dubin-Johnson syndrome
- Ehlers-Danlos syndrome, dermatosparaxis
- Ehlers-Danlos syndrome, hypermobility
- Ehlers-Danlos syndrome, kyphoscoliotic
- Factor V Leiden thrombophilia
- Familial Mediterranean fever
- Galactokinase deficiency
- Galactosemia
- Glutaric acidemia, type 1
- Glycogen storage disease, type Ib
- Glycogen storage disease, type III
- Glycogen storage disease, type V
- GM1-gangliosidosis
- Hearing loss, DFNB1 and DFNB9 nonsyndromic
- Hearing loss, DFNB59 nonsyndromic
- Hemochromatosis
- Hemoglobin C
- Hemoglobin D
- Hemoglobin E
- Hemoglobin O
- Hereditary Fructose Intolerance
- Herlitz junctional epidermolysis bullosa, LAMA3-related
- Herlitz junctional epidermolysis bullosa, LAMB3-related
- Herlitz junctional epidermolysis bullosa, LAMC2-related
- HMG-CoA lyase deficiency
- Homocystinuria, cblE type
- Homocystinuria, classic
- Hurler syndrome
- Hypophosphatasia, autosomal recessive
- Inclusion Body Myopathy 2
- Juvenile retinoschisis, X-linked
- Krabbe disease
- Lipoamide dehydrogenase deficiency
- Lipoprotein lipase deficiency, familial
- Medium-chain acyl-CoA dehydrogenase deficiency
- Megalencephalic leukoencephalopathy with subcortical cysts
- Metachromatic leukodystrophy
- Methylmalonic acidemia
- Mucolipidosis II
- Mucolipidosis III
- Multiple carboxylase deficiency
- Nephrotic syndrome, steroid-resistant
- Neuronal ceroid lipofuscinosis, CLN3-related
- Neuronal ceroid lipofuscinosis, CLN5-related
- Neuronal ceroid lipofuscinosis, CLN8-related
- Neuronal ceroid lipofuscinosis, PPT1-related
- Neuronal ceroid lipofuscinosis, TPP1-related
- Nijmegen breakage syndrome
- Pendred syndrome
- Phenylketonuria
- Polycystic kidney disease
- Pompe disease
- Prekallikrein deficiency
- Primary hyperoxaluria, type 1
- Primary hyperoxaluria, type 2
- Primary hyperoxaluria, type 3
- Propionic acidemia
- Prothrombin deficiency
- Rhizomelic chondrodysplasia punctate type 1
- Rh-null syndrome
- Rickets, pseudovitamin D-deficiency
- Salla disease
- Sandhoff disease
- Short-chain acyl-CoA dehydrogenase deficiency
- Sick sinus syndrome
- Smith-Lemli-Opitz Syndrome
- Spherocytosis, hereditary
- Tay-Sachs pseudodeficiency
- Thrombocytopenia, congenital amegakaryocytic
- Tyrosine Hydroxylase Deficiency
- Very long-chain acyl-CoA dehydrogenase deficiency
- Von Willebrand disease type 2 Normandy
- Von Willebrand disease type 3
- Wilson disease
- Zellweger syndrome spectrum, PEX1-related
Step 1:
Carrier Status DNA Insight® can be ordered from a licensed and registered physician or other qualified healthcare provider.
Physicians can request test kits here.
Step 2:
Once your test has been ordered for you by a physician, you will provide a DNA sample using the DNA collection kit found in the Pathway Genomics box.
Step 3:
You or your authorized health care professional will mail your DNA sample back to Pathway Genomics, along with your test requisition and consent form (return shipping provided). You can view DNA collection instructional video here.
Step 4:
Pathway Genomics processes and analyzes the submitted sample in its CLIA certified and CAP accredited laboratory. Once complete, the patient’s personalized results will be available to the ordering physician. The results will then be released to the patient. Pathway Genomics has a team of genetic counselors available to ensure that both the patient and the physician understand the information in the report, and to answer additional questions.