Recessive Carrier Full Gene Screen_icon_20171008-20t

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

Product 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).

Recessive Disease Carrier Status Full gene screening (>173 diseases)
 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
Hepatic carnitine palmitoyl transferase deficiency Type I
Hepatic carnitine palmitoyl transferase deficiency Type II

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