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Carrier Status DNA Insight®

Genetic Carrier Testing for Parents

Understanding Carrier Status

Each person has two copies of the genetic materials, one copy inherited from each parent. Many genetic diseases are recessive, meaning the disease is caused by inheriting a mutation at the same DNA location from both parents. If a parent carries a mutation in one of the two copies of the DNA, he/she is a carrier of the genetic disease.

A carrier has a 50% chance of passing the same mutation to the child. If both parents are carriers, the child will have a 25% chance of inheriting both copies of the mutation, thus leading to the development of the genetic disease. Some inherited diseases are more common in certain ethnic groups and in people with a family history of genetic disorders.

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.

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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.

MORE ABOUT CARRIER STATUS DNA INSIGHT®

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 saliva sample using the saliva collection kit found in the Pathway Genomics box.

Step 3:

You or your authorized health care professional will mail your saliva sample back to Pathway Genomics, along with your test requisition and consent form (return shipping provided).  You can view our saliva collections instructional video here.

Step 4:

Pathway Genomics analyzes your sample in its CLIA-certified and CAP-accredited laboratory. Typically within two to three weeks, your personalized results will be available to the ordering health care professional. The results will then be released to you. Pathway Genomics has a team of genetic counselors who are available to ensure that you understand the information in your report, and to answer any questions you may have about your results . To contact our genetic counselors, please call our client services department at 877-505-7374 or email clientservices@pathway.com.

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.

Click to download:

  ONE PAGER

  SAMPLE REPORT

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REPORTS: A SIMPLE GUIDE TO UNDERSTANDING

Carrier Status DNA Insight® inside look:

✓ Screens patients for more than 120 recessive genetic diseases.

✓ Supported by rigorous science using clinically-relevant, well-validated markers and assays.

✓ Enables physicians to offer calculated guidance on pre- and postnatal health.

GET THE PATHWAY GENOMICS APP TODAY!

  • Access an interactive version of the report anytime, anywhere

  • Learn about other Pathway tests and how they can help lead a healthier life

  • Help friends and family by sharing the power of genetic insight

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