Neu-Laxova syndrome (NLS) is an autosomal recessive disorder characterized by severe congenital malformations leading to prenatal or early postnatal lethality. Main findings include intrauterine growth retardation, microcephaly, ichthyosis, flexion deformities, edema of the hands and feet, and abnormal facial features including abnormal or absent eyelids, flat or abnormal nose, and a round gaping mouth.read more
Tests Available
By gene: PHGDH
Next Generation Sequencing
$900
Test Code: 2165
|
Deletion / Duplication
$900
Test Code: 2166
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NGS/Del Dup Comprehensive
$1,100
Test Code: 2167
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Related Panels
Test Details
Technical Information
Genes:
PHGDH
Disease Groups:
Craniosynostosis and Craniofacial Disorders
Neurological and Muscular Disorders
Skin, Tooth, Nail and Hair Disorders
MIM:
256520
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
2165 Turnaround Time:
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.