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Test Code
5168
Test Name
Microcephalic Primordial Dwarfism NGS Panel
CPT Codes
81479
Expected Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Clinical Utility
Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure appropriate treatment and establish recurrence risk for family members.
Specimen and Container Info

Non-Prenatal Specimens

Preferred/Alternate

Specimen Type

Containers

Volume

Preferred Specimen Type

Whole Blood

Lavender Top (EDTA)

3 mL

Alternate Specimen Type

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

Alternate Specimen Type

Fibroblasts

T-25 Flasks

2 confluent T-25 flasks, filled to capacity

Alternate Specimen Type

Saliva (Whole blood is recommended for CNV)

DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children

Follow kit instructions (www.dnagenotek.com)

Prenatal Specimens

Either specimen type below is acceptable.

Specimen Type

Containers

Volume

Cultured cells

T-25 Flasks

2 confluent T-25 flasks derived from amnio or CVS samples.

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.
Transport Instructions
  • Transport at room temperature within 24 hours.
  • If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
  • Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 
Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours
Causes for Rejection
  • Improperly labeled specimen (minimum of two patient identifiers)
  • Inappropriate specimen type
  • Incomplete or incorrect test request form
  • Insufficient volume
  • Specimen has leaked in transit
  • Specimen without a test order
Methodology
Next Generation Sequencing and Copy Number Variation Analysis
Performing Location
Genomics - Snowdrift
Description

Microcephalic primordial dwarfism consists of a group disorders including Meier-Gorlin syndrome, microcephalic osteodysplastic primordial dwarfism and Seckel syndrome. The main findings include intrauterine and postnatal growth retardation, severe short stature, and microcephaly. Microcephalic primordial dwarfism is caused by mutations in the genes involved in cell cycle and DNA repair.

The microcephalic primordial dwarfism NGS panel consists of twenty-one genes: ATR, ATRIP, CDC45, CDC6, CDT1 CENPJ, CEP63, CEP152, DNA2, DONSON, GMNN, LIG4, NIN, ORC1, ORC4, ORC6, PCNT, RBBP8, RNU4ATAC, TRAIP and XRCC4.

 

 

Gene

Disorder

MIM

Inheritance

ATR

Seckel syndrome 1

210600

AR

ATRIP

Seckel syndrome, ATRIP related

-

AR

CDC45

Meier-Gorlin syndrome 7

617063

AR

CDC6

Meier-Gorlin syndrome 5

613805

AR

CDT1

Meier-Gorlin syndrome 4

613804

AR

CENPJ

Microcephaly 6, primary, autosomal recessive

Seckel syndrome 4

608393

613676

AR

AR

CEP63

Seckel syndrome 6

614728

AR

CEP152

Microcephaly 9, primary, autosomal recessive

Seckel syndrome 5

614852

613823

AR

AR

DNA2

Seckel syndrome 8

615807

AR

DONSON

Microcephaly-micromelia syndrome

251230

AR

 

Microcephaly, short stature, and limb abnormalities

617604

AR

GMNN

Meier-Gorlin syndrome 6

616835

AR

LIG4

LIG4 syndrome

Microcephalic primordial dwarfism, LIG4 related

606593

-

AR

AR

NIN

Seckel syndrome 7

614851

AR

ORC1

Meier-Gorlin syndrome 1

224690

AR

ORC4

Meier-Gorlin syndrome 2

613800

AR

ORC6

Meier-Gorlin syndrome 3

613803

AR

PCNT

Microcephalic osteodysplastic primordial dwarfism, type II

210720

AR

RBBP8

Seckel syndrome 2

606744

AR

RNU4ATAC

Microcephalic osteodysplastic primordial dwarfism, type I

Roifman syndrome

210710

616651

AR

AR

TRAIP

Seckel syndrome 9

616777

AR

XRCC4

Short stature, microcephaly, and endocrine dysfunction (SSMED)

616541

AR
Testing Schedule
Monday-Friday
Genes
ATR, ATRIP, CDC45, CDC6, CDT1, CENPJ, CEP152, CEP63, DNA2, DONSON, GMNN, LIG4, NIN, ORC1, ORC4, ORC6, PCNT, RBBP8, RNU4ATAC, TRAIP, XRCC4
Disease Group
Craniosynostosis and Craniofacial Disorders, Skeletal Disorders
The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. View the Terms.
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