Description
Recessive Carrier Full Gene Screen
Recessive Carrier Genetic Screening Test is a comprehensive preconception and prenatal carrier screening test. It provides physicians with information about the risks of inherited diseases of their patients’ future children. The Recessive Carrier Genetic Screening Test follows the American College of Obstetricians and Gynecologists (ACOG) and Amercican College of Medical Genetics (ACMG) recommendations to screen more than 173 recessive genetic diseases.
This test uses the most advanced Next Generation Sequencing (NGS) technology in a CAP, CLIA accredited genetic laboratory in Colorado, US to conduct Full Gene sequencing instead of hotspot testing
Recessive carrier full gene screening test is for those who wish to understand their risks of passing the diseases to their children, Those with a family history of recessive disease may also benefit from the screening. It is also advisable for couples to do it together.
Common Recessive diseases at a glance
Fragile X Syndrome
Carrier rate: 1: 151 in females (general population)
Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome. In males (who have only one X chromosome), a mutation in the only copy of a gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females.
Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled. Children with fragile X syndrome may also have anxiety and hyperactive behavior such as fidgeting or impulsive actions. They may have attention deficit disorder (ADD), which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About one-third of individuals with fragile X syndrome have features of autism spectrum disorders that affect communication and social interaction. Fragile X syndrome is inherited in an X-linked dominant pattern
Spinal Muscular Atropy
Carrier rate 1:47 – 72
Spinal muscular atrophy (SMA) is a genetic disease that results in progressive muscle weakness and paralysis. The condition occurs in 1 in 10,000 live births and affects both males and females.
There are three types of SMA. The most severe type is usually diagnosed within the first few months of life. Affected children have severe muscle weakness and typically do not survive past the age of 2.
The other two types of SMA, which are less common than the severe type, involve a lesser degree of muscle weakness. Most affected individuals need to use wheelchairs or need assistance with walking. Life expectancy for the less severe types ranges from the teenage years to adulthood. Those with the mildest form of SMA are expected to have a normal lifespan.
Pendred syndrome
Carrier rate: 1:50 (Chinese)
It is a disorder typically associated with hearing loss and a thyroid condition called a goiter. If a goiter develops in a person with Pendred syndrome, it usually forms between late childhood and early adulthood. In most people with Pendred syndrome, severe to profound hearing loss caused by changes in the inner ear (sensorineural hearing loss) is evident at birth.
Phenylketonuria (commonly known as PKU)
Carrier rate: 1:53 (Chinese)
It is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. The signs and symptoms of PKU vary from mild to severe. The most severe form of this disorder is known as classic PKU. Infants with classic PKU appear normal until they are a few months old. Without treatment, these children develop permanent intellectual disability. Seizures, delayed development, behavioral problems, and psychiatric disorders are also common.
Smith-Lemli-Opitz syndrome
Carrier rate: 1: 68 (General population)
It is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Many affected children have the characteristic features of autism, a developmental condition that affects communication and social interaction. The signs and symptoms of Smith-Lemli-Opitz syndrome vary widely. Mildly affected individuals may have only minor physical abnormalities with learning and behavioral problems. Severe cases can be life-threatening and involve profound intellectual disability and major physical abnormalities.
Wilson’s disease
Carrier rate: 1:90 (Asian)
Wilson disease is an inherited disorder in which excessive amounts of copper accumulate in the body, particularly in the liver, brain, and eyes. Symptoms are typically related to the brain and liver. Liver related symptoms include vomiting, weakness, fluid build up in the abdomen, swelling of the legs, yellowish skin, and itchiness. Brain related symptoms include tremors, muscle stiffness, trouble speaking, personality changes, anxiety, and seeing or hearing things that others do not. Most people with Wilson’s disease are diagnosed between the ages of 5 and 35, but it can affect younger and older people, as well.
Beta -Thalassemia
Carrier rate: 1: 100 (Chinese)
Thalassemia encompasses a varied group of inherited blood disorders, including some that are relatively mild and others that may cause severe anemia and other serious problems. The signs and symptoms of thalassemia major appear within the first 2 years of life. Children develop life-threatening anemia. They do not gain weight and grow at the expected rate (failure to thrive) and may develop yellowing of the skin and whites of the eyes (jaundice).
SCAD Deficiency 17-beta-hydroxysteroid dehydrogenase X deficiency 2-methylbutyryl-CoA Dehydrogenase Deficiency 3-hydroxyacyl-CoA dehydrogenase deficiency 3-Methylcrotonyl-CoA carboxylase 1 deficiency (MCC1D) 3-Methylcrotonyl-CoA carboxylase 2 deficiency (MCC2D) 3-methylglutaconic aciduria type I (MCGA1) 3-methylglutaconic aciduria, type III 3-methylglutaconic aciduria, type V Adrenoleukodystrophy Hb EE |
Hb Barts Hb C disease (Hb CC) Hb C/ Beta0 thalassemia Hb C/Beta+ thalassemia Hb D disease (Hb DD) Hb D/ Beta0 thalassemia Hb D/Beta+ thalassemia Hb E/ Beta0 thalassemia Hb E/Beta+ thalassemia |
Alpha-methylacetoacetic aciduria (3-ketothialase deficiency) Argininemia (Arginase Deficiency) Arginosuccinic Aciduria Ault-onset citrullinemia Type II Autosomal dominant deafness Type 3A Autosomal dominant deafness Type IIB Autosomal dominant deafness Type IIIB Autosomal dominant persistent hypermethioninemia due to methionine adenosyltransferase I/III deficiency Autosomal recessive deafness Autosomal recessive deafness Type 1A |
Hb H (3 gene deletion) Hb H/Constant Spring disease Hb S/ Beta0 thalassemia Hb S/Beta + thalassemia Hb Variant/ Beta0 thalassemia Hb Variant/Beta+ thalassemia Hb variants, Alpha thalassemia Hemolytic anemia due to G6PD deficiency |
Autosomal recessive deafness Type IB Autosomal recessive deafness type IV Autosomal recessive Methionine adenosyltransferase deficiency Barth Syndrome Bart-Pumphrey Syndrome Beta thalassemia major BH4-deficient Hyperphenylalaninemia A BH4-deficient Hyperphenylalaninemia B BH4-deficient Hyperphenylalaninemia C BH4-deficient Hyperphenylalaninemia D |
Hereditary persistence of fetal hemoglobin Hex A pseudodeficiency HMG-CoA Lyase Deficiency Holocarboxylase synthetase deficiency Homocystinuria due to MTHFR deficiency Homocystinuria, B6-responsive and nonresponsive types Hyperhomocysteinemic thrombosis Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Hystrix-like ichthyosis with deafness Isobutyryl-CoA dehydrogenase deficiency |
Biotinidase deficiency Bloom Syndrome Canavan disease Carnitine-acylcarnitine translocase (CACT) deficiency cbl E complementation type homocystinuria-megaloblastic anemia cbl G complementation type homocystinuria-megaloblastic anemia cblB complement type Vitamin B-12 responsive methylmalonic aciduria (due to defect in synthesis of adenosylcobalamin) cblD complement type homocystinuria (Variant 1) cblD complement type homocystinuria (Variant 2) cblD complement type Methylmalonic aciduria and homocystinuria |
Isovaleric acidemia Keratitis ichthyosis deafness syndrome Krabbe disease LCHAD deficiency Lethal neonatal CPT2 deficiency Malonyl-CoA decarboxylase deficiency Maple syrup urine disease type II Maple syrup urine disease, type Ia Maple syrup urine disease, type Ib MCAD Deficiency |
cblJ Type Methylmalonic aciduria and homocystinuria Citrullinemia Clouston type ectodermal dysplasia Type II Cogenital bilateral absence of the vas deferens (CVAD) Combined malonic and methylmalonic aciduria Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency Congenital hypothyroidism due to thyroid dysgenesis or hypoplasia Congenital nongoitrous hypothyroidism 1 Congenital nongoitrous hypothyroidism 4 Congenital nongoitrous hypothyroidism 6 |
Mental retardation X-linked syndromic 10 (MRXS10) Methylmalonic aciduria and homocystinuria, cblC type Methylmalonic aciduria due to Methylmalonyl-CoA Mutase deficiency Methylmalonic aciduria due to transcobalamin receptor defect Methylmalonyl-CoA epimerase deficiency Mucolipidosis IV Mucopolysaccharidosis Ih Mucopolysaccharidosis Ih/s Mucopolysaccharidosis Is Neonatal hypertrypsinemia |
CPT2 deficiency associated myopathy Cystic Fibrosis Digenic deafness GJB2/GJB3 Digenic GJB2/GJB6 deafness Dihydrolipoamide dehydrogenase deficiency DOPA-responsive dystonia (with or without hyperphenylalaninemia) Erythrokeratodermia variabilis et progressiva Fabry disease Familial dilated cardiomyopathy Familial dysautonomia |
Neonatal onset citrullinemia Type II Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type C1 Niemann-pick disease, type C2 Niemann-Pick disease, type D Nonautoimmune hyperthyroidism Non-classic hyperandrogenism due to 21-hydroxylase deficiency Non-PKU hyperphenylalanemia Optic atrophy 3 with cataract |
Familial gestational hyperthyroidism Familial hyperinsulinemic hypoglycemia type 4 Favism Galactokinase deficiency with cataracts Galactose epimerase deficiency Galactosemia Gaucher disease Type I Gaucher disease Type II Gaucher disease Type III Gaucher disease Type IIIC |
Ornithine transcarbamylase deficiency Palmoplantar keratoderma with deafness Partial adenosine deaminase deficiency Pendred syndrome Perinatal lethal Gaucher disease Phenylketonuria Propionicacidemia Severe combined immunodeficiency (SCID) due to adenosine deaminase deficiency (ADAD) Sickle cell anemia (S/S) Sickle cell disease variants |
Glutaric acidemia IIA Glutaric acidemia IIB Glutaric acidemia IIC Glutaric aciduria Type I Glycine N-methyltransferase deficiency Glycogen storage disease Ia Glycogen storage disease II GM2-gangliosidosis Hawkinsinuria |
Sickle hemoglobin C disease Sickle hemoglobin D disease Sickle hemoglobin E disease Susceptibility to acute-infection induced encephalopathy Susceptibility to autoimmune thyroid disease Type III Systemic primary carnitine deficiency Tay-Sachs disease Thryoid dyshormonogenesis 6 Thyroid dyshormonogenesis 1 |
Fragile X Syndrome spinal muscular atrophy Vitamin B-12 responsive methylmalonic aciduria VLCAD deficiency Vohwinkel syndrome X-linked mental retardation with methylmalonic acidemia and homocysteinemia X-linked severe combined immunodeficiency (SCID) |
Thyroid dyshormonogenesis 2A Thyroid dyshormonogenesis 3 Thyroid hormone resistance Transcobalamin II deficiency Trifunctional protein deficiency Tyrosinemia, type I Tyrosinemia, type II Tyrosinemia, type III |