Assure™ SNP Microarray Analysis (FDA cleared) – Prenatal & Postnatal
Indications
Abnormal fetal ultrasound findings with a normal karyotype
De novo apparently balanced chromosomal rearrangement…
Chromosome analysis [High Resolution]
Indications
Testing of peripheral blood is recommended for individuals with multiple congenital anomalies…
Indications
Individuals affected with Cri-du-chat are characterized by dysmorphic facial features…
Cystic Fibrosis [FDA Approved]
Indications
Cystic fibrosis (CF) is the most common autosomal recessive genetic disease with a disease frequency of approximately 1 in 2,500 newborns…
DiGeorge/Velocardiofacial Syndrome
Indications
DiGeorge and Velocardiofacial syndromes both are caused by 22q11 deletions. Fetus with congenital heart defect on fetal ultrasound…
Indications
Down syndrome is caused by the presence of an additional copy of all or a portion of chromosome 21…
Indications
Trisomy 18 or Edwards Syndrome is a genetic disorder caused by the presence of an extra copy of all or part of chromosome 18…
Indications
Kallmann syndrome consists of congenital, isolated, idiopathic hypogonadotropic hypogonadism and anosmia…
Indications
Individuals affected with Miller-Dieker syndrome are characterized by lissencephaly, mental retardation and a distinct facial appearance…
Indications
Patau syndrome, also known as trisomy 13, is a syndrome…
Prader-Willi Syndrome (PWS)/Angelman Syndrome
Indications
Diagnostic criteria for PWS may include: hypotonia, failure to thrive, rapid weight gain between 12 months and 6 years…
Indications
Individuals affected with Smith-Magenis syndrome are characterized by a flattened mid-face, down-turned mouth…
Steroid Sulfatase Deficiency
Indications
Steroid Sulfatase Deficiency (X-linked Ichthyosis) is a genetic disorder that causes an X-linked form of Ichthyosis…
Subtelomere Microdeletion Analysis
Indications
Submicroscopic abnormalities at the ends of chromosomes are a significant cause of idiopathic mental retardation…
Indications
Williams syndrome is a genetic disorder characterized by “elfin” facial features, mental retardation, growth deficiency…
Indications
Individuals with Wolf-Hirschhorn syndrome are characterized by microcephaly, growth deficiency, mental retardation and characteristic facial features…