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Test Code
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5075
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Test Name
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Epidermolysis Bullosa NGS Panel
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CPT Codes
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81479
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Expected Turnaround Time
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Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
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Clinical Utility
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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.
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Specimen and Container Info
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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. |
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Transport Instructions
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- 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.
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Stability Requirements
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Room Temperature
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Refrigerated
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Causes for Rejection
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- 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
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Methodology
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Next Generation Sequencing and Copy Number Variation Analysis
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Performing Location
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Genomics - Snowdrift
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Alternate Names
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EB
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Description
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Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of mechanobullous diseases. They are characterized by skin fragility with recurrent blister formation. EB can be divided into four major types: EB simplex, junctional EB, dystrophic EB and Kindler. Peeling skin syndrome is also included in this panel. The Epidermolysis bullosa NGS panel consists of twenty-four genes: CAST, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT5, KRT14, LAMA3, LAMB3, LAMC2, PKP1, PLEC, SERPINB8, and TGM5. Copy number variation (CNV) analysis, of the epidermolysis bullosa genes, is also offered as a panel. Additionally, Genomics offers a comprehensive test (both NGS and CNV panels) for these genes. Panel genes are also offered as individual sequencing and deletion/duplication tests unless otherwise indicated. | Gene | Disorder | MIM | Inheritance | | CAST | Peeling skin with leukonychia, acral punctate keratoses,
cheilitis, and knuckle pads (PLACK) | 616295 | AR | | CDSN | Peeling skin syndrome 1 (PSS1)
Hypotrichosis 2 (HYPT2) | 270300
146520 | AR
AD | | CHST8 | Peeling skin syndrome 3 (PSS3) | 616265 | AR | | COL17A1 | Epidermolysis bullosa, junctional, non-Herlitz type
Epithelial recurrent erosion dystrophy (ERED) | 226650
122400 | AR
AD | | COL7A1 | Epidermolysis bullosa dystrophica, autosomal dominant
Epidermolysis bullosa dystrophica, autosomal recessive | 131750
226600 | AD
AR | | CSTA | Peeling skin syndrome 4 (PSS4) | 607936 | AR | | DSP | Epidermolysis bullosa, lethal acantholytic (EBLA)
Skin fragility-woolly hair syndrome (SFWHS)
Cardiomyopathy, dilated, with woolly hair and keratoderma (DCWHK)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (DCWHKTA) | 609638
607655
605676
615821 | AR
AR
AR
AD | | DST | EBS, autosomal recessive 2 (EBSB2) | 615425 | AR | | EXPH5 | Epidermolysis bullosa, nonspecific, autosomal recessive (EBNS) | 615028 | AR | | FERMT1 | Kindler syndrome | 173650 | AR | | ITGA3 | Interstitial lung disease, nephrotic syndrome, and EB, congenital | 614748 | AR | | ITGA6 | Epidermolysis bullosa, junctional, with pyloric atresia | 226730 | AR | | ITGB4 | Epidermolysis bullosa of hands and feet
Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa, junctional, with pyloric atresia | 131800
226650
226730 | AD
AR
AR | | JUP | Epidermolysis bullosa, lethal congenital
Naxos disease (NXD) | -
601214 | AR
AR | | KLHL24 | Epidermolysis bullosa simplex, generalized, with scarring and hair loss (EBSSH) | 617294 | AD | | KRT14 | Epidermolysis bullosa simplex, Dowling-Meara type (EBSDM)
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1)
Epidermolysis bullosa simplex, localized (Weber-Cockayne type) | 131760
131900
601001
131800 | AD
AD
AR
AD | | KRT5 | Epidermolysis bullosa simplex, Dowling-Meara type (EBSDM)
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1)
Epidermolysis bullosa simplex, localized (Weber-Cockayne type)
Epidermolysis bullosa simplex with mottled pigmentation (EBSMP)
Epidermolysis bullosa simplex with migratory circinate erythema | 131760
131900
601001
131800
131960
609352 | AD
AD
AR
AD
AD
AD | | LAMA3 | Epidermolysis bullosa, junctional, Herlitz type
Epidermolysis bullosa, junctional, non-Herlitz type
Laryngoonychocutaneous syndrome (LOCS) | 226700
226650
245660 | AR
AR
AR | | LAMB3 | Amelogenesis imperfecta, type IA (AI1A)
Epidermolysis bullosa, junctional, Herlitz type
Epidermolysis bullosa, junctional, non-Herlitz type | 104530
226700
226650 | AD
AR
AR | | LAMC2 | Epidermolysis bullosa, junctional, Herlitz type
Epidermolysis bullosa, junctional, non-Herlitz type | 226700
226650 | AR
AR | | PKP1 | Ectodermal dysplasia/skin fragility syndrome | 604536 | AR | | PLEC | Epidermolysis bullosa simplex, Ogna type (EBSOG)
Epidermolysis bullosa simplex with muscular dystrophy (EBSMD)
Epidermolysis bullosa simplex with pyloric atresia (EBSPA) | 131950
226670
612138 | AD
AR
AR | | SERPINB8 | Peeling skin syndrome 5 (PSS5) | 617115 | AR | | TGM5 | Peeling skin syndrome 2 (PSS2) | 609796 | AR |
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Testing Schedule
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Monday-Friday
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Genes
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CAST, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, SERPINB8, TGM5
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MIM
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131750, 131760, 131800, 131900, 131950, 131960, 173650, 226600, 226650, 226670, 226700, 226730, 245660, 601001, 604536, 607655, 609352, 609638, 609796, 612138, 614748, 615028, 615425
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Disease Group
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Hair and Nail disorders, Skin, Tooth
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