Indications
Acetylcholinesterase (AChE) is a neural enzyme present in cerebral spinal fluid and fetal blood. AChE is not present in maternal blood and is not normally measurable in amniotic fluid….
Indications
Alpha-fetoprotein (AFP) is a protein produced by the fetal liver. The function of the protein is not known. It is found in high concentration in fetal blood and in lower concentration in fetal urine….
Amniotic Fluid Chromosome Analysis
Indications
- Abnormal first trimester screening result
- Advanced maternal age (>35 years of age)..
AneuVysion™ Prenatal FISH (13, 18, 21, X, Y) [FDA Approved]
Indications
- Abnormal first trimester screening result
- Advanced maternal age (>35 years of age)…
Chorionic Villus Sampling (CVS) Chromosome Analysis
Indications
- Advanced maternal age (>35 years of age)
- Previous pregnancy with chromosomal abnormality…
Assure™ SNP Microarray Analysis (FDA cleared) – Prenatal & Postnatal
Indications
- Abnormal fetal ultrasound findings with a normal karyotype
- De novo apparently balanced chromosomal rearrangement….
Indications
Individuals affected with Cri-du-chat are characterized by dysmorphic facial features, microcephaly, growth deficiency, mental retardation, speech delay and a characteristic “cat-like” cry…
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 For Edwards syndrome (trisomy 18)
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
Fragile X syndrome is the most common form of inherited intellectual disability. Fragile X syndrome occurs among all ethnic backgrounds and racial groups….
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, characteristic facial features, hypogonadism and mild to moderate mental retardation…
Indications
Individuals affected with Smith-Magenis syndrome are characterized by a flattened mid-face, down-turned mouth, hypotonia, short, broad hands, mental retardation, chronic sleep disturbance and self-injurious behavior….
Steroid Sulfatase Deficiency
Indications
Steroid Sulfatase Deficiency (X-linked Ichthyosis) is a genetic disorder that causes an X-linked form of Ichthyosis…..
Indications
Williams syndrome is a genetic disorder characterized by “elfin” facial features, mental retardation, growth deficiency, hypercalcemia and cardiovascular disease….
Indications
Individuals with Wolf-Hirschhorn syndrome are characterized by microcephaly, growth deficiency, mental retardation and characteristic facial features…