Epidermolysis bullosa NGS panel

Number of Panel Genes:

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, CTGT 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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Tests Available

24 Panel Genes: CAST, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT5, KRT14, LAMA3, LAMB3, LAMC2, PKP1, PLEC, SERPINB8, TGM5

$1,300

Test Code: 5073

$990

Test Code: 5074

$1,500

Test Code: 5075

Test Details

Technical Information

Panel Genes:

CAST, CDSN, CHST8, COL17A1, COL7A1, CSTA, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KLHL24, KRT5, KRT14, LAMA3, LAMB3, LAMC2, PKP1, PLEC, SERPINB8, TGM5

Disease Groups:

Skin, Tooth, Nail and Hair Disorders

MIM:

609796

609638

607655

604536

131760

131900

131800

601001

131960

609352

615028

612138

131950

226670

615425

226700

226650

245660

226730

614748

173650

131750

226600

Billing

CPT Codes:

81479 x 1

81406 x 1

Ordering

SKU:

5073

Turnaround Time:

Typically 2 to 4 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: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Fibroblasts: 2 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: