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: KCNH1
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Sanger Sequencing
$790
Test Code: 2198
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Deletion / Duplication
$680
Test Code: 2199
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Sanger/Del Dup Comprehensive
$1,370
Test Code: 2200
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Related Panels
Test Details
Technical Information
Genes:
KCNH1
Disease Groups:
Craniosynostosis and Craniofacial Disorders
Limb Hypoplasia - Reduction Defects
MIM:
135500
Billing
Price:
$790
CPT Codes:
81479 x 1
Ordering
SKU:
2198 Turnaround Time:
Typically 1 to 2 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
- Fibroblasts: 4 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: 4 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.