- Your physician collects one tube of blood and places the order.
- We analyze your DNA and quantify your risk in a simple online report.
- Patients with health insurance will usually pay no more than $99.
You may remember from biology that genes are inherited in pairs, one from each parent. A “carrier” is a healthy person with one normal copy A and one abnormal copy a of a gene within a pair. For most of the diseases on the Counsyl Test, as long as you have one normal copy of the gene, you're okay. Carriers typically do not exhibit any symptoms of the disease. You're just a carrier; nothing more, nothing less.
|A||AA Not a Carrier||Aa Carrier|
|a||aA Carrier||aa Affected|
I do not have a family history of genetic disease or birth defects. Am I at risk?
Yes. Most couples who give birth to a child with a recessive disease have no family history of that disease. In fact, 80% of children with cystic fibrosis are born to parents with no known family history of cystic fibrosis. Since carriers of recessive diseases do not typically display symptoms of the disease, most are unaware of their potential risks. Individuals who display symptoms of the disease have two abnormal copies of the gene, one from each parent. In other words, two healthy carriers of the same genetic disease transmit their abnormal copy to the next generation. The risk of this occurring is 25% with each pregnancy.
Have more questions? Find the answer in our Help Center.
Shortened life span
Spinal muscular atrophy is one example. SMA is the leading genetic cause of infant death under the age of two years. It is a disease that affects the motor neurons of the nervous system, resulting in progressive muscle weakness. About 1/35 people are unknowingly carriers of SMA.
Ataxia-telangiectasia is one example. Children with A-T appear normal at birth, with initial signs of imbalance and slurred speech beginning in childhood. The disease becomes progressively worse and children eventually require a wheelchair. As many as 1/100 people are unknowingly carriers of A-T.
Fragile X syndrome is one example. About one-third of boys with fragile X syndrome have autism or autistic-like behaviors. Fragile X syndrome is one of a few conditions on the Counsyl Test that is inherited in an X-linked dominant manner. Nearly 1/225 women are unknowingly carriers.
Does the Counsyl Test include Down syndrome?
No. Down syndrome is not usually inherited from previous generations. Instead, it occurs randomly at the time of conception.
Have more questions? Find the answer in our Help Center.
- = Testing for this disease recommended to be offered by ACOG
- = Testing for this disease recommended to be offered by ACMG
- ABCC8-related Hyperinsulinism
- Alpha-1 Antitrypsin Deficiency
- Andermann Syndrome
- Ataxia With Vitamin E Deficiency
- Autosomal Recessive Polycystic Kidney Disease
- Bardet-Biedl Syndrome, BBS1-related
- Bardet-Biedl Syndrome, BBS10-related
- Biotinidase Deficiency
- Bloom Syndrome
- Canavan Disease
- Carnitine Palmitoyltransferase IA Deficiency
- Carnitine Palmitoyltransferase II Deficiency
- Cartilage-Hair Hypoplasia
- 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
- D-Bifunctional Protein Deficiency
- *Factor V Leiden Thrombophilia
- Factor XI Deficiency
- Familial Dysautonomia
- Familial Mediterranean Fever
- Fanconi Anemia Type C
- Fragile X Syndrome
- Gaucher Disease
- GJB2-related DFNB1 Nonsyndromic Hearing Loss and Deafness
- *Glucose-6-Phosphate Dehydrogenase Deficiency
- 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
- Hb Beta Chain-Related Hemoglobinopathy (Including Beta Thalassemia and Sickle Cell Disease)
- 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 (Including Tay-Sachs Disease)
- *HFE-associated Hereditary Hemochromatosis
- 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
- *MTHFR Deficiency
- 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
- *Prothrombin Thrombophilia
- Pseudocholinesterase Deficiency
- Rhizomelic Chondrodysplasia Punctata Type 1
- Salla Disease
- Segawa Syndrome
- Short Chain Acyl-CoA Dehydrogenase Deficiency
- Sjogren-Larsson Syndrome
- Smith-Lemli-Opitz Syndrome
- Spinal Muscular Atrophy
- Steroid-Resistant Nephrotic Syndrome
- Sulfate Transporter-Related Osteochondrodysplasia
- 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
* - Only included if requested by the ordering physician.