DNA Carrier Status/Family Planning

About this test

Key Benefits

• Analyze Carrier Status: Identify whether you carry inherited genetic conditions.

• Family Planning Insights: Gain valuable information before pregnancy or fertility treatment.

• Simple At-Home Testing: Collect your sample easily using a saliva test at home.

• Detailed Digital Results: Access your personalized laboratory results online within approximately 4–8 weeks.

• Support Informed Decisions: Better understand potential inherited genetic risks for future children.

What This Test Measures

This test analyzes genetic variants associated with 20 inherited conditions, including both autosomal recessive and X-linked disorders.

Examples of included conditions:

• Cystic Fibrosis (CFTR)

• Tay-Sachs Disease (HEXA)

• Phenylketonuria (PAH)

• Alpha-1 Antitrypsin Deficiency (SERPINA1)

• Duchenne and Becker Muscular Dystrophy (DMD)

• Hemophilia A (F8)

• Hemophilia B (F9)

• Fabry Disease (GLA)

• Adrenoleukodystrophy (ABCD1)

The analysis evaluates whether you carry genetic variants associated with these conditions, even if you do not have symptoms yourself.

About Carrier Status and Genetics

Many inherited genetic conditions are carried silently without causing symptoms in the carrier. When both biological parents carry certain genetic variants, there may be an increased likelihood of passing inherited conditions to future children.

Carrier screening may provide additional insight for individuals or couples planning pregnancy, fertility treatment, or seeking a better understanding of inherited genetic risks.

How It Works

• Order Your Kit: Purchase your test online.

• Collect Your Sample: Use the saliva collection kit at home.

• Send It Back: Mail your sample to the laboratory using the prepaid return envelope.

• Receive Results: Access your detailed digital laboratory results within approximately 3–5 weeks after the laboratory receives your sample.

Sample Collection

The sample is collected using a simple saliva test at home. You provide a saliva sample in the collection tube and return it to the laboratory for analysis using the prepaid return packaging included in the kit.

ISO-Certified Lab and Analysis

Your sample is analyzed in an ISO-certified laboratory using the Illumina GSA Microarray, a type of SNP genotyping technology used for accurate analysis of inherited genetic variants associated with carrier status and family planning.

Biomarkers included

• PEX1: PEX1 is involved in the formation and function of peroxisomes, specialized structures within cells that are important for metabolism, detoxification, and fatty acid processing.
• MEFV: MEFV is linked to immune system regulation and inflammatory responses. Variants in this gene may influence how the body controls inflammation and responds to immune-related triggers.
• GJB2: GJB2 is involved in communication between cells in the inner ear and plays an important role in maintaining normal hearing and auditory function.
• GLA: GLA is involved in the breakdown of certain fat molecules within cells and supports normal metabolic and lysosomal function throughout the body.
• DMD: DMD helps maintain muscle structure, strength, and stability by producing dystrophin, a protein essential for normal muscle cell function and protection.
• SERPINA1: SERPINA1 is associated with the production of alpha-1 antitrypsin, a protein that helps protect the lungs from damage and supports normal liver function. Variants in this gene may influence how the body regulates inflammation, tissue protection, and respiratory health.
• F8: F8 is involved in blood clotting and coagulation pathways that help control bleeding and support normal wound healing processes.
• CLN2: CLN2 is involved in enzyme activity important for normal brain and nervous system function, particularly in the breakdown and removal of cellular waste products.
• HEXA: HEXA is important for breaking down fatty substances in nerve cells and supporting normal neurological function and cellular maintenance within the nervous system.
• CLN6: CLN6 plays a role in cellular maintenance and waste processing within nerve cells and other tissues, supporting normal neurological cellular function.
• F9: F9 also plays an important role in normal blood clotting and coagulation processes necessary for controlling bleeding.
• PAH: PAH is involved in the metabolism of the amino acid phenylalanine and helps the body properly process proteins obtained from food.
• CLN8: CLN8 is associated with lipid transport, cellular communication, and normal function within the nervous system and brain cells.
• GJB1: GJB1 is important for communication between nerve cells and supports normal peripheral nervous system function and signal transmission.
• MCOLN1: MCOLN1 is associated with lysosomal function and cellular transport processes that help cells break down, process, and recycle substances needed for normal cellular maintenance.
• ABCD1: ABCD1 is associated with the transport and metabolism of fatty acids, particularly within the nervous system and adrenal glands, where these processes are important for normal cellular function.
• OTC: OTC is involved in ammonia detoxification and the urea cycle, helping the body process proteins and remove excess nitrogen waste safely.
• BTD: BTD is involved in recycling biotin (vitamin B7), an important vitamin for energy metabolism, nervous system function, skin health, and enzyme activity throughout the body.
• SMPD1: SMPD1 helps break down specific fats and lipids inside cells, supporting normal cellular metabolism, storage processes, and lysosomal function.
• CFTR: CFTR helps regulate the movement of salt and fluids across cell membranes, particularly in the lungs, pancreas, intestines, and digestive system. This gene plays an important role in maintaining normal mucus consistency and fluid balance.

How to prepare

24 hours before: Avoid alcohol, caffeine, nicotine, and intense exercise. 30 minutes before: Don’t brush teeth, drink, eat, smoke or chew gum.

Frequently asked questions

How does it work? / When do I get my results?

1. Order and receive your kit. 2. Perform the test. 3. Send a sample at the beginning of the week (to avoid delays). 4. Results digitally in 10–15 business days.

What does it mean to be a "carrier" of a genetic condition?

A carrier is an individual who has one mutated copy of a gene and one functional copy. Carriers typically do not show any symptoms of the disease but can pass the mutated gene to their biological children.

What happens if both partners are carriers?

If both biological parents are carriers of the same autosomal recessive condition, there is a 25% chance with each pregnancy that the child will inherit two mutated genes and be affected by the condition. Knowing this status allows couples to explore options like prenatal testing or preimplantation genetic testing (PGT) during IVF.

Does this test provide ancestry or ethnicity results?

No, this test is specifically designed for family planning and identifying carrier status for inherited conditions. It does not provide information regarding ancestral origins or ethnic percentages.

Can I receive the raw data from my test?

No. We provide your results in a comprehensive report with the relevant values and interpretations. We do not provide the raw laboratory data.

Customer reviews

4.8/5 (5)

• 4/5 — It took a little longer than I expected to get the results back, but the report was very detailed. Easy saliva collection.
• 5/5 — The instructions were very clear and the kit arrived quickly.
• 5/5 — Very straightforward testing kit.
• 5/5 — Glad we did this before trying to conceive. It’s a relief to have the information.
• 5/5 — Great for peace of mind while planning our first baby. Clear results.