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Test Code HPE Seq Holoprosencephaly Sequencing Panel

Important Note

This panel includes 14 genes: CDON, DISP1, DLL1, FGF8, FOXH1, GAS1, GLI2, NODAL, PTCH1, SHH, SIX3, TDGF1, TGIF1, & ZIC2

Clinical System Name

Holoprosencephaly Sequencing Panel

Synonyms

HPE

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender Top/EDTA, Yellow/ACD

Preferred Vol: 3 - 5 mL

Minimum Vol: 1 mL for small infants

 

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 5 µg -10 µg of purified DNA at a concentration of at least 20 µg/ml

Minimum Vol:

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Deliver blood to Sendouts refrigerator rack. Store labels in the clear plastic box on front of the CPA fridge.

 

Off-site collection: Send whole blood refrigerated.

Stability

Specimen Type Temperature Time
Whole blood Room temp 2 d
Whole blood Refrigerated 7 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely

 

Availability

STAT TAT
N 4 w

 

Performing Laboratory

PreventionGenetics

3800 S. Business Park Ave.

Marshfield, Wisconsin 54449

 

Phone Number: (715) 387-0484

Department

Department: Send Outs

 

Phone Number: (206) 987-2563

 

Reference Range

Interpretive report is provided.

Methodology

Method: Next Generation Sequencing. The full coding regions, plus ~20 bp of non-coding DNA flanking each exon, are sequenced for each of the genes listed below. Sequencing is accomplished by capturing specific regions with an optimized solution-based hybridization method, followed by massively parallel sequencing of the captured DNA fragments. Additional Sanger sequencing is performed for any regions not captured or with insufficient number of sequence reads. All pathogenic, undocumented and questionable variant calls are confirmed by Sanger sequencing.

Analytical Volume:

Limitations:

CPT Codes

81479 (Updated by sstasi 7/27/2017)

Special Instructions

Links to:

 

PreventionGenetics

Clinical Utility

Holoprosencephaly GeneReviews

 

Holoprosencephaly (HPE) is a structural anomaly of the brain in which there is failed or incomplete separation of the forebrain early in gestation. Classic HPE encompasses a continuum of brain malformations including (in order of decreasing severity): alobar, semilobar, lobar, and middle interhemispheric variant (MIHV) type HPE; a septopreoptic type has also been described. Other CNS abnormalities not specific to HPE may also occur. HPE is accompanied by a spectrum of characteristic craniofacial anomalies in approximately 80% of individuals with HPE. Developmental delay is present in virtually all individuals with the HPE spectrum of CNS anomalies. Seizures and pituitary dysfunction are common.

Send Out Instructions

Reference Test Name: Holoprosencephaly, Autosomal Dominant, Nonsyndromic, Sequencing Panel
Reference Test Number: 2661
Instructions: Ship whole blood overnight, ambient temperature. PreventionGenetics accepts Saturday delivery.