| A B C D E F G H I J K L M N O P Q R S T U V W X Y Z # |
CTGT #1267 FLNA seq (Periventricular heterotopia, X-linked dominant (PVNH1))
Test Code1267
CPT Codes
81479
Preferred Specimen
whole blood
Minimum Volume
3-5 mL
Transport Container
Lav(EDTA)
Methodology
DNA Sequencing
Clinical Significance
"Clinical Description: Periventricular heterotopia, X-linked dominant (PVNH1) is a neuronal migration disorder characterized by multiple noncalcified nodules consisting of differentiated neurons located in the cerebral periventricular region. Many, but not all females with the disorder suffer seizures that are refractory to treatment. PVNH1 is usually caused by loss of function mutations in FLNA. Males with loss of function FLNA mutations die in utero or shortly after birth. Surviving males with PVNH1 are either somatic mosaics or seemingly have FLNA missense mutations that do not lead to complete loss of function. Additional findings in females with PVNH1 may include patent ductus arteriosus, coagulopathy with associated strokes, mild mental retardation, small joint hypermobiltiy and gut dysmotility.
The otopalatodigital syndromes are a group of X-linked disorders composed of otopalatodigital syndrome type I (OPD1) and II (OPD2), frontometaphyseal dysplasia (FMD) and Melnick-Needles syndrome (MNS). These disorders may represent a phenotypic continuum and are characterized by a skeletal dysplasia and combinations of craniofacial, genitourinary, cardiac, intestinal and brain anomalies (refer to the individual OMIM entries for a more complete clinical description of each disorder).
"
The otopalatodigital syndromes are a group of X-linked disorders composed of otopalatodigital syndrome type I (OPD1) and II (OPD2), frontometaphyseal dysplasia (FMD) and Melnick-Needles syndrome (MNS). These disorders may represent a phenotypic continuum and are characterized by a skeletal dysplasia and combinations of craniofacial, genitourinary, cardiac, intestinal and brain anomalies (refer to the individual OMIM entries for a more complete clinical description of each disorder).
"
