Product Description
Most people do not know they are a carrier for an inherited genetic disease until they have a child with the disease but carrier screening can identify those at risk of having a baby with one of these conditions so that they can make informed choices. The Invitae Carrier Screen is ideal for patients and couples of all ethnicities who want a comprehensive assessment (288 genes) of their risk of having an affected child. It includes the most commonly ordered genes associated with disorders seen across all ethnicities including:
- Cystic fibrosis (CF)
- Duchenne Muscular Dystrophy (DMD)
- Spinal Muscular Atrophy (SMA)
- Fragile X syndrome
- All disorders recommended by the American College of Obstetricians and Gynecologists (ACOG)
- All disorders recommended by the American College of Medical Genetics (ACMG)
- Disorders recommended by national Jewish societies
- Prevalent disorders with an elevated carrier frequency across ethnicities
- Well-defined disorders that may have a severe impact on quality of life
- A selection of disorders found on Invitae extended newborn screen
Who should consider Carrier Screening?
Invitae Comprehensive Carrier Screening can be ordered before or during pregnancy and is ideally suited for couples who want to learn about their genetic status, so that they can make more informed reproductive decisions.
- Individuals or couples who want to know more about their genetic status in order to make more informed reproductive decisions
- Individuals or couples receiving donor sperm or eggs and who want to select a donor that doesn’t carry the same mutation as the member of the couple who will provide the gametes
- People with a family history of a genetic disease or from an ethnic background known to be at risk for certain genetic diseases and who are therefore at higher risk of being carriers for those diseases
- Couples who are already pregnant and who wish to know more about the genetic health of their pregnancy
For more information click on link – https://www.invitae.com/en/physician/tests/60100/?cat=CAT000239
Optional addons at no additional cost:
BTD: Biotinidase deficiency
F11: Factor XI deficiency (Hemophilia C)
F2: Prothrombin-related thrombophilia
F5: Factor V Leiden thrombophilia
G6PD: Glucose-6-phosphate dehydrogenase (G6PD) deficiency
GP1BA: Bernard-Soulier syndrome (GP1BA-related)
GP9: Bernard-Soulier syndrome (GP9-related)
HFE: Hereditary hemochromatosis (HFE-related)
HGD: Alkaptonuria
MCCC1: 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency (MCC1-related)
MCCC2: 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency (MCC2-related)
MEFV: Familial mediterranean fever
SERPINA1: Alpha-1 antitrypsin deficiency
