- Cystic Fibrosis – Horizon can detect more than 500 different mutations
- Fragile X – Horizon also detects automatic AGG interruption, further refining your risk level
- Duchenne Muscular Dystrophy – the most common form of muscular dystrophy affecting children
- Hemoglobinopathies – including alpha thalassemia, beta thalassemia, and sickle-cell disease
- Spinal Muscular Atrophy (SMA) – including enhanced SMA (2+0) screening to identify a silent carrier
- Cohen Syndrome is caused by a gene change, or mutation, in both copies of the VPS13B gene pair (also known as COH1). These mutations cause the genes to not work properly or not work at all
- Gaucher Disease is an autosomal recessive disorder that commonly affects the liver, spleen, and bone marrow. Gaucher Disease, Type 1 is the most common form of the disease and causes enlarged liver and spleen with bone abnormalities. Gaucher Types 2 and 3 cause brain and nervous system problems such as seizures and low muscle tone.
- Maple Syrup Urine Disease, Type 1A is an autosomal recessive disorder in which the body is unable to break down certain building blocks of protein from food. Signs and symptoms usually begin in infancy and include poor feeding, vomiting, lack of energy, failure to grow at the normal rate, and developmental delay.
- Niemann-Pick Disease, Type C1/D is one of a group of autosomal recessive disorders that affect many parts of the body. Signs and symptoms of Niemann-Pick Disease, Type C1/D often begin in childhood and include problems with coordination and muscle movements, seizures, liver and lung disease, abnormal eye movements (supranuclear palsy), and poor muscle tone
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Horizonscreen.com Carrier DNA Tests
Horizon looks at your genes to see if you’re a carrier for up to 274 autosomal-recessive and X-linked genetic conditions. Horizonscreen carrier testing is a DNA testing for possible recessive genetic disease carriers that provides details on recessive hereditary disorders one may have or pass on to children through reproduction based upon their specific DNA fingerprint.
From the original DNA Carrier Disease Companies article “This company primarily focuses on 274 autosomal recessive and X-linked genetic disorders or predispositions, such as Cystic Fibrosis, Duchenne Muscular Dystrophy, certain deficiencies, and Cohen Syndrome. Although an individual may carry a specific gene linked to a genetic disorder, that does not mean that the individual has it. If the condition is recessive, then the individual does not display the condition, but has a 50% chance of passing their gene onto offspring through the process of reproduction. If that individual’s partner also carries the recessive gene and they both pass it onto their child, then the condition will be observed in the offspring.”
From the Natura website featuring the Horizon testing ”
- one of the largest panels available—274 unique conditions
- complimentary pre- and post-test genetic information sessions with board-certified genetic counselors
- next-generation sequencing—the latest technology—to provide better detection rates
- one of the first labs to screen for Duchenne muscular dystrophy
- a comprehensive Jewish panel—appropriate for both Ashkenazi and Sephardic Jews
- five screening panels customized for specific populations, and à la carte ordering options
- patient-friendly reports, fact sheets, and videos to help you understand your results”
The cost of these DNA carrier tests could differ tremendously based on what disease they are testing for. Some diseases are more complicated than others to test for. The specific sort of carrier screening one chooses to look for plays a part in the overall price. Additionally, some insurance or medical plans could cover a big part of the cost for a DNA carrier screening depending on the disease. The only means to obtain a true estimate of the cost of testing is to figure out which screening to do and how you plan on paying for it, then call the company at 650-249-9090 and also set up a phone appointment to obtain an estimate. Natera offers payments plans starting as low as $25/month. Additionally you can contact your neighborhood medical professional and talk about the options of blood or saliva testing and possible price differences. Results take roughly 2 weeks to reach a requesting physician, who will then contact this patient and deliver the results to them. He may combine the DNA results with family history information.
Carrier screening is usually done once as your carrier status for a specific condition typically does not change. Depending on what you have been screened for in the past, your doctor or genetic counselor may recommend additional carrier screening for more conditions. On the front page of your Horizon results report, there will be a summary box. Your results will be provided in that box. Your result may say “CARRIER for” and then the specific disease name next to it. The summary also includes the mutation or variant you carry as well as some information about the risk to have an affected child. If a variant is not found in any of the genes screened for on your Horizon test, your results will say “NEGATIVE.” This means that we did not detect any disease causing variants for which you were screened.
Horizon is incredibly useful when it comes to discussing reproduction options and ensuring that no negative congenital diseases are passed on through the generations. Lots of families get evaluated in order to recognize the mathematical chances of handing down specific recessive problems or tendencies to their potential children.
The research laboratory in which this certain test is performed has actually been accredited by the CLIA and identified to be reliable and accurate. From the original review article “Consumer reviews appear to be nothing but positive about this screening company. They truly dedicate themselves to their clients and pride themselves in delivering results with 100% accuracy. The staff at Horizon is very well-trained in the fields of genetics, molecular biology, and clinical research. The laboratory in which this specific test is performed has been certified by the CLIA and determined to be effective and accurate. Horizonscreen carrier testing center is a good choice when you looking for answers that could affect your child or child-to-be.”
Among the carrier tests they offer are: