Zimmermann-Laband syndrome (ZLS) is an autosomal dominant developmental disorder. It is characterized by facial dysmorphism consisting of thick eyebrows, a bulbous soft nose, thick floppy ears and thick lips, gingival enlargement, hypoplasia or aplasia of nails and terminal phalanges, and intellectual disability. Additional findings include seizures, sensorineural hearing loss, hepato(spleno)megaly, joint hyperextensibility, scoliosis and hirsutism.read more

Tests Available

By gene: ATP6V1B2
Next Generation Sequencing
Test Code: 2201
Deletion / Duplication
Test Code: 2202
NGS/Del Dup Comprehensive
Test Code: 2203

Related Panels
Zimmermann-Laband syndrome NGS panel (2 genes)
NGS $1,100
Del Dup $990
Comp $1,300

Test Details

Technical Information
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
Limb Hypoplasia - Reduction Defects
CPT Codes: 
81479 x 1
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: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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