Collect whole blood in a purple top (EDTA) tube (preferred). Extracted DNA and saliva are also acceptable.
Specimen Preparation
Please provide detailed clinical history and features. For more information contact the lab at 6-1447 or by sending an email to DGDGeneticCounselor@chop.edu.
Unacceptable Conditions
Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.
Storage/Transport Temperature
For CHOP Phlebotomy: Samples can be collected throughout the week. Samples collected on weekends or holidays are held in Central Labs and sent to the Genomic Diagnostic Lab the following business day.
For External Clients: Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday, optimally within 24 hours of collection.
Please contact the lab (267-426-1447) with questions regarding non-blood specimens.
Volume Required
2-3 mL of blood or 3 ug of DNA with a concentration of at least 50 ng/ul
Minimum Required
1 mL of whole blood
Phlebotomy Draw
Yes
Clinical Features
The Craniofacial Panel includes genes that are known to be associated with disorders presenting with phenotypic features affecting the shape of the head and/or facial appearance. The main disease categories covered by this panel include craniosynostosis disorders, skeletal dysplasia disorders, and connective tissue disorders that may present with a craniofacial phenotype. Developmental delay, seizures, and dysmorphisms involving the face, skeleton, and nervous system are associated phenotypic features that may be observed along with craniosynostosis. Frontonasal dysplasias are disorders characterized by hypertelorism, a flat, broad nose, median facial cleft, widow's peak hairline, and lack of formation of the nasal tip. Skeletal dysplasias are disorders characterized by shortening of bones in legs and/or arms, bowed or fractured bones, abnormal ribs, asymmetric bone growth, polydactyly, and in some skeletal dysplasias, craniosynostosis.
Performing Lab
Division of Genomic Diagnostics
Performed
Mon - Fri 9:00am to 4:00pm
Reported
28 days
Detection Rate
The clinical sensitivity for comprehensive sequence and copy number analysis is not yet well-established and is dependent on the panel's gene content and the patient's clinical features.
Utility
The clinical utility of the assay is to support a clinical diagnosis of the disease, to facilitate genetic counseling, to assess the risk to other first degree relatives, and to facilitate testing of at-risk family members. Molecular confirmation of a diagnosis may help guide recommendations for medical management and screening, and may help avoid unnecessary procedures.
Genomic DNA is extracted from patient tissue following standard DNA extraction protocols. Whole genome sequencing is performed on the Illumina NovaSeq 6000 platform using the Illumina DNA PCR-Free Library Prep with 150bp paired-end reads. Mapping and analysis is based on the GRCh38 reference sequence. Sequencing data is processed using the Dragen pipeline (Illumina) to call both sequence and copy number variants.
Molecular Testing Notes
The genes on the Craniofacial Panel are known to be associated with disorders presenting with phenotypic features affecting the shape of the head and/or facial appearance. This panel includessequence and copy number analyses of the following genes and regions of interest: ALPL, ALX1, ALX3, ALX4, CD96, CHD7, DHODH, EFNB1, EFTUD2, ERF, EVC, EVC2, EYA1, FGFR1, FGFR2, FGFR3, GLI3, IFT122, IFT43, MEGF8, MIR17HG**, MSX2, MYCN, PDE4D, PLCB4, POLR1C, POLR1D, POR, PRKAR1A, RAB23, RECQL4, RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SPECC1L, TCF12, TCOF1, TWIST1, WDR19, WDR35, ZIC1
**Copy number analysis only is performed for these genes.
CPT Codes
81404(x3), 81405, 81406, 81407, 81479
Collection
Collect
Collect whole blood in a purple top (EDTA) tube (preferred). Extracted DNA and saliva are also acceptable.
Specimen Preparation
Please provide detailed clinical history and features. For more information contact the lab at 6-1447 or by sending an email to DGDGeneticCounselor@chop.edu.
Unacceptable Conditions
Heparinized specimens, severely hemolyzed specimens, frozen, clotted or possibly commingled specimens, blood in non-sterile or leaky containers, mislabeled or inappropriately labeled specimens.
Storage/Transport Temperature
For CHOP Phlebotomy: Samples can be collected throughout the week. Samples collected on weekends or holidays are held in Central Labs and sent to the Genomic Diagnostic Lab the following business day.
For External Clients: Refrigerate sample until shipment. Send the sample at room temperature with overnight delivery for receipt Monday through Friday, optimally within 24 hours of collection.
Please contact the lab (267-426-1447) with questions regarding non-blood specimens.
Volume Required
2-3 mL of blood or 3 ug of DNA with a concentration of at least 50 ng/ul
Minimum Required
1 mL of whole blood
Phlebotomy Draw
Yes
Ordering
Clinical Features
The Craniofacial Panel includes genes that are known to be associated with disorders presenting with phenotypic features affecting the shape of the head and/or facial appearance. The main disease categories covered by this panel include craniosynostosis disorders, skeletal dysplasia disorders, and connective tissue disorders that may present with a craniofacial phenotype. Developmental delay, seizures, and dysmorphisms involving the face, skeleton, and nervous system are associated phenotypic features that may be observed along with craniosynostosis. Frontonasal dysplasias are disorders characterized by hypertelorism, a flat, broad nose, median facial cleft, widow's peak hairline, and lack of formation of the nasal tip. Skeletal dysplasias are disorders characterized by shortening of bones in legs and/or arms, bowed or fractured bones, abnormal ribs, asymmetric bone growth, polydactyly, and in some skeletal dysplasias, craniosynostosis.
Performing Lab
Division of Genomic Diagnostics
Performed
Mon - Fri 9:00am to 4:00pm
Reported
28 days
Detection Rate
The clinical sensitivity for comprehensive sequence and copy number analysis is not yet well-established and is dependent on the panel's gene content and the patient's clinical features.
Utility
The clinical utility of the assay is to support a clinical diagnosis of the disease, to facilitate genetic counseling, to assess the risk to other first degree relatives, and to facilitate testing of at-risk family members. Molecular confirmation of a diagnosis may help guide recommendations for medical management and screening, and may help avoid unnecessary procedures.
Genomic DNA is extracted from patient tissue following standard DNA extraction protocols. Whole genome sequencing is performed on the Illumina NovaSeq 6000 platform using the Illumina DNA PCR-Free Library Prep with 150bp paired-end reads. Mapping and analysis is based on the GRCh38 reference sequence. Sequencing data is processed using the Dragen pipeline (Illumina) to call both sequence and copy number variants.
Molecular Testing Notes
The genes on the Craniofacial Panel are known to be associated with disorders presenting with phenotypic features affecting the shape of the head and/or facial appearance. This panel includessequence and copy number analyses of the following genes and regions of interest: ALPL, ALX1, ALX3, ALX4, CD96, CHD7, DHODH, EFNB1, EFTUD2, ERF, EVC, EVC2, EYA1, FGFR1, FGFR2, FGFR3, GLI3, IFT122, IFT43, MEGF8, MIR17HG**, MSX2, MYCN, PDE4D, PLCB4, POLR1C, POLR1D, POR, PRKAR1A, RAB23, RECQL4, RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SPECC1L, TCF12, TCOF1, TWIST1, WDR19, WDR35, ZIC1
**Copy number analysis only is performed for these genes.
