List of diseases covered by Waardenburg Syndrome NGS panel

Published 14/01/2019

List of diseases covered by
Waardenburg Syndrome NGS panel

Gene Condition
EDN3 Waardenburg syndrome, type 4B
EDNRB Waardenburg syndrome, type 4A; ABCD syndrome
MITF Waardenburg syndrome, type 2A;
Waardenburg syndrome/ocular albinism, digenic; COMMAD syndrome;
Tietz albinism-deafness syndrome
PAX3 Waardenburg syndrome, type 1; Waardenburg syndrome, type 3;
Craniofacial-deafness-hand syndrome; Rhabdomyosarcoma 2, alveolar
SNAI2 Waardenburg syndrome, type 2D; Piebaldism
SOX10 Waardenburg syndrome, type 2E, with or without neurologic involvement;
Waardenburg syndrome, type 4C; PCWH syndrome

Waardenburg Syndrome

Published 14/01/2019

Waardenburg Syndrome
NGS panel

Genes
(full
coding region):		 EDN3, EDNRB, MITF, PAX3, SNAI2, SOX10

List of diseases covered by the panel
Price / TAT: 1030 EUR / 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
SThe A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: MITF, PAX3, SOX10
Lab method: MLPA
Price / TAT: 590 EUR / 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Carrier testing for at-risk relatives
  3. Genetic counseling

Waardenburg syndrome (WS) is a group of genetic conditions characterized by sensorineural hearing loss and pigmentary abnormalities of the iris, hair, and skin, along with dystopia canthorum. Hearing loss is congenital, typically non-progressive, either unilateral or bilateral, and sensorineural.

The classic sign of hair pigmentation anomaly with WS is white forelock appearing typically in the teen years. Ocular pigmentary manifestations may include complete or segmental heterochromia or hypoplastic or brilliant blue irides.

Waardenburg syndrome affects an estimated 1 in 20,000-40,000 people.

Four types of WS can be distinguished by physical characteristics and genetic cause. Types I and III are inherited in an autosomal dominant manner, types II and IV are autosomal recessive.

References:

Farrer LA et al. Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium. Am J Hum Genet. 1992;50:902–13.
Milunsky JM. Waardenburg Syndrome Type I. GeneReviews® 2001 July 30 (Updated 2014 Aug 7)
Shields CL et al. Waardenburg syndrome: iris and choroidal hypopigmentation: findings on anterior and posterior segment imaging. JAMA Ophthalmol. 2013;131:1167–73.
Tamayo ML et al. Screening program for Waardenburg syndrome in Colombia: clinical definition and phenotypic variability. Am J Med Genet A. 2008;146A:1026–31.

List of diseases covered by Palmoplantar Keratoderma NGS panel

Published 14/01/2019

List of diseases covered by Palmoplantar Keratoderma NGS panel

Gene Condition
AAGAB Keratoderma, palmoplantar, punctate type IA
AQP5 Palmoplantar keratoderma, Bothnian type
DSG1 Keratosis palmoplantaris striata I, AD;
Erythroderma, congenital, with palmoplantar keratoderma,
hypotrichosis, and hyper IgE
KRT1 Palmoplantar keratoderma, epidermolytic;
Palmoplantar keratoderma, nonepidermolytic; Epidermolytic hyperkeratosis;
Ichthyosis histrix, Curth-Macklin type;
Ichthyosis, cyclic, with epidermolytic hyperkeratosis;
Keratosis palmoplantaris striata III
KRT9 Palmoplantar keratoderma, epidermolytic
KRT10 Epidermolytic hyperkeratosis;
Ichthyosis with confetti; Ichthyosis, cyclic, with epidermolytic hyperkeratosis
KRT16 Pachyonychia congenita 1;
Palmoplantar keratoderma, nonepidermolytic, focal
KRT6C Palmoplantar keratoderma, nonepidermolytic,
focal or diffuse
SERPINB7 Palmoplantar keratoderma, Nagashima type
SNAP29 Cerebral dysgenesis, neuropathy, ichthyosis,
and palmoplantar keratoderma syndrome
TRPV3 Olmsted syndrome; Palmoplantar keratoderma, nonepidermolytic, focal 2

Palmoplantar Keratoderma NGS panel

Published 14/01/2019

Palmoplantar Keratoderma NGS panel

Genes
(full
coding region):		 AAGAB, AQP5, DSG1, KRT1, KRT9, KRT10, KRT16, KRT6C, SERPINB7, SNAP29, TRPV3

List of diseases covered by the panel
Price / TAT: 1070 EUR / 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

 

List of diseases covered by Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome NGS panel

Published 11/01/2019

List of diseases covered by
Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome
NGS panel

Gene Condition
AP3B1 Hermansky-Pudlak syndrome 2
BLOC1S3 Hermansky-Pudlak syndrome 8
BLOC1S6 Hermansky-pudlak syndrome 9
DTNBP1 Hermansky-Pudlak syndrome 7
GPR143 Nystagmus 6, congenital, X-linked;
Ocular albinism, type I, Nettleship-Falls type
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6
LRMDA Albinism, oculocutaneous, type VII
LYST Chediak-Higashi syndrome
OCA2 Albinism, oculocutaneous, type II
SLC24A5 Albinism, oculocutaneous, type VI
SLC45A2 Albinism, oculocutaneous, type IV
TYR Albinism, oculocutaneous, type IA;
Albinism, oculocutaneous, type IB;
Waardenburg syndrome/albinism, digenic
TYRP1 Albinism, oculocutaneous, type III

Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome

Published 11/01/2019

Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome
NGS panel

Genes
(full
coding region):		 AP3B1, BLOC1S3, BLOC1S6, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LRMDA, LYST, OCA2, SLC24A5, SLC45A2, TYR, TYRP1

List of diseases covered by the panel
Price / TAT: 1051 EUR / 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis

Genes: GPR143, OCA2, TYR
Lab method: MLPA
Price / TAT: 710 EUR / 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Carrier testing for at-risk family members
  3. Genetic counseling
  4. Prenatal diagnosis for known familial mutation

Neurofibromatosis NGS panel

Published 11/01/2019

Neurofibromatosis NGS panel

Genes: NF1, NF2, SMARCB1, SPRED1
Price / TAT: 1070 EUR / 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Melanoma 

Published 11/01/2019

Melanoma
NGS panel

Genes: CDK4, CDKN2A, MITF
Price / TAT: 1070 EUR / 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Del/dup analysis

Genes: CDK4, CDKN2A, CDKN2B, MITF
Lab method: MLPA
Price / TAT: 590 EUR / 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Ichthyosis NGS panel

Published 11/01/2019

Ichthyosis NGS panel

Genes
(full
coding region):		 ABCA12, ABHD5, ALDH3A2, ALOX12B, ALOXE3, AP1S1, CDSN, CERS3, CLDN1, CYP4F22, EBP, ERCC2, ERCC3, FLG, GJB2, GJB3, GJB4, GTF2H5, KRT1, KRT2, KRT9, KRT10, LIPN, LOR, MPLKIP, NIPAL4, PEX7, PHYH, PNPLA1, POMP, SLC27A4, SNAP29, SPINK5, ST14, STS, SUMF1, TGM1, TGM5

List of diseases covered by the panel
Price / TAT: 1070 EUR / 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

 

List of diseases covered by Hypotrichosis NGS panel

Published 10/01/2019

List of diseases covered by Hypotrichosis NGS panel

Gene Condition
APCDD1 Hypotrichosis 1
CDSN Hypotrichosis 2; Peeling skin syndrome 1
DSG4 Hypotrichosis 6
HR Hypotrichosis 4; Alopecia universalis;
Atrichia with papular lesions
KRT71 Hypotrichosis 13
KRT74 Hypotrichosis 3; Woolly hair, autosomal dominant;
Ectodermal dysplasia 7, hair/nail type
LIPH Hypotrichosis 7
LPAR6 Hypotrichosis 8;
RPL21 Hypotrichosis 12
SNRPE Hypotrichosis 11

List of diseases covered by Hermansky-Pudlak Syndrome NGS panel

Published 10/01/2019

List of diseases covered by
Hermansky-Pudlak Syndrome NGS panel

Gene Condition
AP3B1 Hermansky-Pudlak syndrome 2
BLOC1S3 Hermansky-Pudlak syndrome 8
BLOC1S6 Hermansky-pudlak syndrome 9
DTNBP1 Hermansky-Pudlak syndrome 7
HPS1 Hermansky-Pudlak syndrome 1
HPS3 Hermansky-Pudlak syndrome 3
HPS4 Hermansky-Pudlak syndrome 4
HPS5 Hermansky-Pudlak syndrome 5
HPS6 Hermansky-Pudlak syndrome 6

Hermansky-Pudlak Syndrome NGS panel

Published 10/01/2019

Hermansky-Pudlak Syndrome NGS panel

Genes
(full
coding region):		 AP3B1, BLOC1S3, BLOC1S6, DTNBP1, HPS1, HPS3, HPS4, HPS5, HPS6

List of diseases covered by the panel
Price / TAT: 1070 EUR / 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

 

List of diseases covered by Epidermolysis Bullosa NGS panel

Published 02/01/2019

List of diseases covered by
Epidermolysis Bullosa NGS panel

Gene Condition
CD151 Nephropathy with pretibial epidermolysis bullosa and deafness
CDSN Hypotrichosis 2; Peeling skin syndrome 1
CHST8 Peeling skin syndrome 3
COL7A1 Epidermolysis bullosa dystrophica, AD;
Epidermolysis bullosa dystrophica, AR; Epidermolysis bullosa pruriginosa;
Epidermolysis bullosa, pretibial; Toenail dystrophy, isolated;
Transient bullous of the newborn; EBD, Bart type
COL17A1 Epidermolysis bullosa, junctional, localisata variant;
Epithelial recurrent erosion dystrophy
DSG1 Erythroderma, congenital, with palmoplantar keratoderma,
hypotrichosis, and hyper IgE; Keratosis palmoplantaris striata I, AD
DSP Epidermolysis bullosa, lethal acantholytic;
Keratosis palmoplantaris striata II; Skin fragility-woolly hair syndrome;
Cardiomyopathy, dilated, with woolly hair and keratoderma;
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis
DST Epidermolysis bullosa simplex, autosomal recessive 2
EXPH5 Epidermolysis bullosa, nonspecific, autosomal recessive
FERMT1 Kindler syndrome
ITGA3 Interstitial lung disease, nephrotic syndrome,
and epidermolysis bullosa, congenital
ITGB4 Epidermolysis bullosa of hands and feet;
Epidermolysis bullosa, junctional, non-Herlitz type;
Epidermolysis bullosa, junctional, with pyloric atresia
ITGA6 Epidermolysis bullosa, junctional, with pyloric stenosis
JUP Naxos disease
KRT1 Epidermolytic hyperkeratosis;
Ichthyosis histrix, Curth-Macklin type;
Ichthyosis, cyclic, with epidermolytic hyperkeratosis;
Keratosis palmoplantaris striata III; Palmoplantar keratoderma, epidermolytic;
Palmoplantar keratoderma, nonepidermolytic
KRT5 Dowling-Degos disease 1;
Epidermolysis bullosa simplex, Dowling-Meara type;
Epidermolysis bullosa simplex, Koebner type;
Epidermolysis bullosa simplex, recessive 1;
Epidermolysis bullosa simplex, Weber-Cockayne type;
Epidermolysis bullosa simplex-MCR; Epidermolysis bullosa simplex-MP
KRT14 Dermatopathia pigmentosa reticularis;
Epidermolysis bullosa simplex, Dowling-Meara type;
Epidermolysis bullosa simplex, Koebner type;
Epidermolysis bullosa simplex, recessive 1;
Epidermolysis bullosa simplex, Weber-Cockayne type;
Naegeli-Franceschetti-Jadassohn syndrome
LAMA3 Epidermolysis bullosa, generalized atrophic benign;
Epidermolysis bullosa, junctional, Herlitz type;
Laryngoonychocutaneous syndrome
LAMB3 Epidermolysis bullosa, junctional, Herlitz type;
Epidermolysis bullosa, junctional, non-Herlitz type;
Amelogenesis imperfecta, type IA
LAMC2 Epidermolysis bullosa, junctional, Herlitz type;
Epidermolysis bullosa, junctional, non-Herlitz type
MMP1 Epidermolysis bullosa dystrophica,
autosomal recessive, modifier of
PLEC Epidermolysis bullosa simplex with nail dystrophy;
Epidermolysis bullosa simplex with muscular dystrophy;
Epidermolysis bullosa simplex with pyloric atresia;
Epidermolysis bullosa simplex, Ogna type
PKP1 Ectodermal dysplasia/skin fragility syndrome
TGM5 Peeling skin syndrome 2

Epidermolysis Bullosa NGS panel

Published 02/01/2019

Epidermolysis Bullosa NGS panel

Genes
(full
coding region):		 CD151, CDSN, CHST8, COL7A1, COL17A1, DSG1, DSP, DST, EXPH5, FERMT1, ITGA3, ITGB4, ITGA6, JUP, KRT1, KRT5, KRT14, LAMA3, LAMB3, LAMC2, MMP1, PLEC, PKP1, TGM5

List of diseases covered by the panel
Price / TAT: 1070 EUR / 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

 

List of diseases covered by Ehlers-Danlos Syndrome NGS panel

Published 18/12/2018

List of diseases covered by
Ehlers-Danlos Syndrome NGS panel

Gene Condition
ADAMTS2 Ehlers-Danlos syndrome, dermatosparaxis type
AEBP1 Ehlers-Danlos syndrome, classic-like, 2
ALDH18A1 Cutis laxa, autosomal dominant 3;
Cutis laxa, autosomal recessive, type IIIA;
Spastic paraplegia 9A, autosomal dominant;
Spastic paraplegia 9B, autosomal recessive
ATP7A Occipital horn syndrome; Menkes disease;
Spinal muscular atrophy, distal, X-linked 3
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA;
Wrinkly skin syndrome
B3GALT6 Ehlers-Danlos syndrome, spondylodysplastic type, 2;
Spondyloepimetaphyseal dysplasia with joint laxity, type 1,
with or without fractures
B3GAT3 Multiple joint dislocations, short stature,
craniofacial dysmorphism, with or without congenital heart defects
B4GALT7 Ehlers-Danlos syndrome, spondylodysplastic type, 1
CHST14 Ehlers-Danlos syndrome, musculocontractural type 1
COL12A1 Bethlem myopathy 2;
Ullrich congenital muscular dystrophy 2
COL1A1 Ehlers-Danlos syndrome, arthrochalasia type, 1;
Caffey disease; Osteogenesis imperfecta, type I;
Osteogenesis imperfecta, type II;
Osteogenesis imperfecta, type III; Osteogenesis imperfecta, type IV
COL1A2 Ehlers-Danlos syndrome, arthrochalasia type, 2;
Ehlers-Danlos syndrome, cardiac valvular type;
Osteogenesis imperfecta, type II;
Osteogenesis imperfecta, type III; Osteogenesis imperfecta, type IV
COL3A1 Ehlers-Danlos syndrome, vascular type
COL5A1 Ehlers-Danlos syndrome, classic type, 1
COL5A2 Ehlers-Danlos syndrome, classic type, 2
C1R Ehlers-Danlos syndrome, periodontal type, 1
C1S Ehlers-Danlos syndrome, periodontal type, 2;
C1s deficiency
GORAB Geroderma osteodysplasticum
DSE Ehlers-Danlos syndrome, musculocontractural type 2
EFEMP2 Cutis laxa, autosomal recessive, type IB
ELN Cutis laxa, autosomal dominant;
Supravalvar aortic stenosis
FBLN5 Cutis laxa, autosomal dominant 2;
Cutis laxa, autosomal recessive, type IA;
Neuropathy, hereditary, with or without age-related macular degeneration
FBN1 Acromicric dysplasia; Ectopia lentis, familial;
Geleophysic dysplasia 2; Marfan lipodystrophy syndrome;
Marfan syndrome;
MASS syndrome; Stiff skin syndrome;
Weill-Marchesani syndrome 2, dominant
FKBP14 Ehlers-Danlos syndrome, kyphoscoliotic type, 2
FLNA FG syndrome 2; Cardiac valvular dysplasia, X-linked;
Congenital short bowel syndrome; Frontometaphyseal dysplasia 1;
Heterotopia, periventricular; Melnick-Needles syndrome;
Otopalatodigital syndrome, type I;
Otopalatodigital syndrome, type II;
Terminal osseous dysplasia
LTBP4 Cutis laxa, autosomal recessive, type IC
PLOD1 Ehlers-Danlos syndrome, kyphoscoliotic type, 1
PRDM5 Brittle cornea syndrome 2
PYCR1 Cutis laxa, autosomal recessive, type IIB;
Cutis laxa, autosomal recessive, type IIIB
SLC39A13 Ehlers-Danlos syndrome, spondylodysplastic type, 3
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis
SMAD3 Loeys-Dietz syndrome 3
TGFB2 Loeys-Dietz syndrome 4
TGFBR1 Loeys-Dietz syndrome 1
TGFBR2 Loeys-Dietz syndrome 2;
TNXB Ehlers-Danlos syndrome, classic-like, 1
ZNF469 Brittle cornea syndrome 1

Ehlers-Danlos Syndrome NGS panel

Published 18/12/2018

Ehlers-Danlos Syndrome NGS panel

Genes
(full
coding region):		 ADAMTS2, AEBP1, ALDH18A1, ATP7A, ATP6V0A2, B3GALT6, B3GAT3, B4GALT7, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, C1R, C1S, GORAB, DSE, EFEMP2, ELN, FBLN5, FBN1, FKBP14, FLNA, LTBP4, PLOD1, PRDM5, PYCR1, SLC39A13, RIN2, SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB, ZNF469

List of diseases covered by the panel
Price / TAT: 1070 EUR / 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

 

List of diseases covered by Cutis Laxa NGS panel

Published 18/12/2018

List of diseases covered by Cutis Laxa NGS panel

Gene Condition
ALDH18A1 Cutis laxa, autosomal dominant 3;
Cutis laxa, autosomal recessive, type IIIA;
Spastic paraplegia 9A, autosomal dominant;
Spastic paraplegia 9B, autosomal recessive
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA;
Wrinkly skin syndrome
ATP7A Menkes disease; Occipital horn syndrome;
Spinal muscular atrophy, distal, X-linked 3
EFEMP2 Cutis laxa, autosomal recessive, type IB
ELN Cutis laxa, autosomal dominant;
Supravalvar aortic stenosis
FBLN5 Cutis laxa, autosomal dominant 2;
Cutis laxa, autosomal recessive, type IA;
Neuropathy, hereditary, with or without age-related macular degeneration
GORAB Geroderma osteodysplasticum
LTBP4 Cutis laxa, autosomal recessive, type IC
PYCR1 Cutis laxa, autosomal recessive, type IIB;
Cutis laxa, autosomal recessive, type IIIB

Cutis Laxa NGS panel

Published 17/12/2018

Cutis Laxa NGS panel

Genes
(full
coding region):		 ALDH18A1, ATP6V0A2, ATP7A, EFEMP2, ELN, FBLN5, GORAB, LTBP4, PYCR1

List of diseases covered by the panel
Price / TAT: 1070 EUR / 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Congenital Myasthenic Syndrome NGS panel

Published 13/12/2018

Congenital Myasthenic Syndrome NGS panel

Genes: AGRN, ALG2, ALG14, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMB2, LRP4, MUSK, PLEC, PREPL, RAPSN, SCN4A, SLC5A7, SNAP25, SYT2

List of diseases covered by the panel
Price / TAT: 1070 EUR / 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

List of diseases covered by Congenital Myasthenic Syndrome NGS panel

Published 13/12/2018

List of diseases covered by
Congenital Myasthenic Syndrome NGS panel

Gene Condition
AGRN Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects
ALG2 Myasthenic syndrome, congenital, 14, with tubular aggregates;
Congenital disorder of glycosylation, type Ii
ALG14 Myasthenic syndrome, congenital, 15,
without tubular aggregates
CHAT Myasthenic syndrome, congenital, 6, presynaptic
CHRNA1 Multiple pterygium syndrome, lethal type;
Myasthenic syndrome, congenital, 1A, slow-channel;
Myasthenic syndrome, congenital, 1B, fast-channel
CHRNB1 Myasthenic syndrome, congenital, 2C,
associated with acetylcholine receptor deficiency;
Myasthenic syndrome, congenital, 2A, slow-channel
CHRND Myasthenic syndrome, congenital, 3A, slow-channel;
Myasthenic syndrome, congenital, 3C,
associated with acetylcholine receptor deficiency;
Multiple pterygium syndrome, lethal type;
Myasthenic syndrome, congenital, 3B, fast-channel
CHRNE Myasthenic syndrome, congenital, 4A, slow-channel;
Myasthenic syndrome, congenital, 4B, fast-channel;
Myasthenic syndrome, congenital, 4C,
associated with acetylcholine receptor deficiency
COLQ Myasthenic syndrome, congenital, 5
DOK7 Myasthenic syndrome, congenital, 10; Fetal akinesia deformation sequence
DPAGT1 Myasthenic syndrome, congenital, 13, with tubular aggregates;
Congenital disorder of glycosylation, type Ij
GFPT1 Myasthenia, congenital, 12, with tubular aggregates
GMPPB Muscular dystrophy-dystroglycanopathy
(congenital with brain and eye anomalies), type A, 14;
Muscular dystrophy-dystroglycanopathy
(congenital with mental retardation), type B, 14;
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14
LAMB2 Nephrotic syndrome, type 5, with or without ocular abnormalities;
Pierson syndrome
LRP4 Myasthenic syndrome, congenital, 17;
Cenani-Lenz syndactyly syndrome; Sclerosteosis 2
MUSK Myasthenic syndrome, congenital, 9,
associated with acetylcholine receptor deficiency;
Fetal akinesia deformation sequence
PLEC Epidermolysis bullosa simplex with nail dystrophy;
Epidermolysis bullosa simplex with muscular dystrophy;
Epidermolysis bullosa simplex with pyloric atresia;
Epidermolysis bullosa simplex, Ogna type;
Muscular dystrophy, limb-girdle, autosomal recessive 17
PREPL Myasthenic syndrome, congenital, 22
RAPSN Myasthenic syndrome, congenital, 11,
associated with acetylcholine receptor deficiency;
Fetal akinesia deformation sequence
SCN4A Myasthenic syndrome, congenital, 16; Hyperkalemic periodic paralysis, type 2;
Hypokalemic periodic paralysis, type 2;
Myotonia congenita, atypical, acetazolamide-responsive;
Paramyotonia congenita
SLC5A7 Myasthenic syndrome, congenital, 20, presynaptic;
Neuronopathy, distal hereditary motor, type VIIA
SNAP25 Myasthenic syndrome, congenital, 18
SYT2 Myasthenic syndrome, congenital, 7, presynaptic

List of diseases covered by Coagulation Disorders NGS panel

Published 13/12/2018

List of diseases covered by
Coagulation Disorders NGS panel

Gene Condition
F2 Hypoprothrombinemia; Thrombophilia due to thrombin defect
F5 Factor V deficiency;
Thrombophilia due to activated protein C resistance
F8 Hemophilia A
F9 Hemophilia B; Thrombophilia, X-linked, due to factor IX defect
F10 Factor X deficiency
F11 Factor XI deficiency
F12 Factor XII deficiency; Angioedema, hereditary, type III
F13A1 Factor XIIIA deficiency
FGA Afibrinogenemia, congenital;
Amyloidosis, familial visceral; Dysfibrinogenemia, congenital
FGB Afibrinogenemia, congenital; Dysfibrinogenemia, congenital
FGG Afibrinogenemia, congenital; Dysfibrinogenemia, congenital
GGCX Pseudoxanthoma elasticum-like disorder
with multiple coagulation factor deficiency;
Vitamin K-dependent clotting factors, combined deficiency of, 1
LMAN1 Combined factor V and VIII deficiency
MCFD2 Factor V and factor VIII, combined deficiency of
SERPINC1 Thrombophilia due to antithrombin III deficiency
VKORC1 Vitamin K-dependent clotting factors, combined deficiency of, 2;
Warfarin resistance
VWF von Willebrand disease, type 1;
von Willebrand disease, types 2A, 2B, 2M, and 2N;
von Willibrand disease, type 3

Coagulation Disorders NGS panel

Published 13/12/2018

Coagulation Disorders NGS panel

Genes: F2, F5, F8, F9, F10, F11, F12, F13A1, FGA, FGB, FGG, GGCX, LMAN1, MCFD2, SERPINC1, VKORC1, VWF

List of diseases covered by the panel
Price / TAT: 1070 EUR / 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Frazer Syndrome NGS panel

Published 12/12/2018

Frazer Syndrome NGS panel

Genes: GRIP1, FREM2, FRAS1
Price / TAT: 1070 EUR / 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

List of diseases covered by Osteogenesis Imperfecta NGS panel

Published 12/12/2018

List of diseases covered by
Osteogenesis Imperfecta NGS panel

Gene Condition
ALPL Hypophosphatasia, adult; Hypophosphatasia, childhood;
Hypophosphatasia, infantile
BMP1 Osteogenesis imperfecta, type XIII
COL1A1 Caffey disease; Ehlers-Danlos syndrome, arthrochalasia type, 1;
Osteogenesis imperfecta, type I; Osteogenesis imperfecta, type Ii;
Osteogenesis imperfecta, type III; Osteogenesis imperfecta, type IV
CREB3L1 Osteogenesis imperfecta, type XVI
CRTAP Osteogenesis imperfecta, type VII
FKBP10 Osteogenesis imperfecta, type XI; Bruck syndrome 1
IFITM5 Osteogenesis imperfecta, type V
LRP5 Exudative vitreoretinopathy 4;
Hyperostosis, endosteal;
Osteopetrosis, autosomal dominant 1; Osteoporosis-pseudoglioma syndrome;
Polycystic liver disease 4 with or without kidney cysts;
van Buchem disease, type 2
MBTPS2 Osteogenesis imperfecta, type XIX;
Olmsted syndrome, X-linked;
IFAP syndrome with or without BRESHECK syndrome;
Keratosis follicularis spinulosa decalvans, X-linked
P3H1 Osteogenesis imperfecta, type VIII
PLOD2 Bruck syndrome 2
PLS3 Bone mineral density QTL18, osteoporosis
PPIB Osteogenesis imperfecta, type IX
SERPINF1 Osteogenesis imperfecta, type VI
SERPINH1 Osteogenesis imperfecta, type X
SP7 Osteogenesis imperfecta, type XII
SPARC Osteogenesis imperfecta, type XVII
TMEM38B Osteogenesis imperfecta, type XIV
WNT1 Osteogenesis imperfecta, type XV

Osteogenesis Imperfecta NGS panel

Published 12/12/2018

Osteogenesis Imperfecta NGS panel

Genes: ALPL, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, LRP5, MBTPS2, P3H1 (LEPRE1), PLOD2, PLS3, PPIB, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, WNT1

List of diseases covered by the panel
Price / TAT: 1338 EUR / 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Primary Ciliary Dyskinesia NGS panel

Published 12/12/2018

Primary Ciliary Dyskinesia NGS panel

Genes: ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CFAP298, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1, DRC1, GAS8, LRRC6, MCIDAS, NME8, PIH1D3, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, ZMYND10

List of diseases covered by the panel
Price / TAT: 1334 EUR / 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

 

List of diseases covered by Primary Ciliary Dyskinesia NGS panel

Published 12/12/2018

List of diseases covered by
Primary Ciliary Dyskinesia NGS panel

Gene Condition
ARMC4 Ciliary dyskinesia, primary, 23
CCDC103 Ciliary dyskinesia, primary, 17
CCDC114 Ciliary dyskinesia, primary, 20
CCDC151 Ciliary dyskinesia, primary, 30
CCDC39 Ciliary dyskinesia, primary, 14
CCDC40 Ciliary dyskinesia, primary, 15
CCDC65 Ciliary dyskinesia, primary, 27
CCNO Ciliary dyskinesia, primary, 29
CENPF Stromme syndrome
CFAP298 Ciliary dyskinesia, primary, 26
DNAAF1 Ciliary dyskinesia, primary, 13
DNAAF2 Ciliary dyskinesia, primary, 10
DNAAF3 Ciliary dyskinesia, primary, 2
DNAAF4 Ciliary dyskinesia, primary, 25
DNAAF5 Ciliary dyskinesia, primary, 18
DNAH1 Ciliary dyskinesia, primary, 37
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DNAH8 Ciliary dyskinesia
DNAI1 Ciliary dyskinesia, primary, 1, with or without situs inversus
DNAI2 Ciliary dyskinesia, primary, 9, with or without situs inversus
DNAL1 Ciliary dyskinesia, primary, 16
DRC1 Ciliary dyskinesia, primary, 21
GAS8 Ciliary dyskinesia, primary, 33
LRRC6 Ciliary dyskinesia, primary, 19
MCIDAS Ciliary dyskinesia
NME8 Ciliary dyskinesia, primary, 6
PIH1D3 Ciliary dyskinesia, primary, 36, X-linked
RPGR Ciliary dyskinesia; Retinitis pigmentosa 3;
Cone-rod dystrophy, X-linked, 1; Macular degeneration, X-linked atrophic;
Retinitis pigmentosa, X-linked, and sinorespiratory infections,
with or without deafness
RSPH1 Ciliary dyskinesia, primary, 24
RSPH3 Ciliary dyskinesia, primary, 32
RSPH4A Ciliary dyskinesia, primary, 11
RSPH9 Ciliary dyskinesia, primary, 12
SPAG1 Ciliary dyskinesia, primary, 28
ZMYND10 Ciliary dyskinesia, primary, 22

Updates in Asper Ophthalmics

Published 12/10/2018

Asper Ophthalmics testing menu has been updated with Senior-Loken Syndrome gene panel. We have also added a number of genes to Cone-Rod Dystrophy, Vitelliform Macular Dystrophy, and comprehensive eye diseases panels. Comprehensive eye diseases panel now covers 283 genes associated with different eye disorders. View updated testing options at www.asperbio.com/asper-ophthalmics/

List of diseases covered by Senior-Loken Syndrome NGS panel

Published 05/10/2018

List of diseases covered by
Senior-Loken Syndrome NGS panel

Gene Condition
CEP290 Senior-Loken syndrome 6; Joubert syndrome 5;
Leber congenital amaurosis 10;
Meckel syndrome 4; Bardet-Biedl syndrome 14
INVS Nephronophthisis 2, infantile
IQCB1 Senior-Loken syndrome 5
NPHP1 Senior-Loken syndrome-1; Joubert syndrome 4;
Nephronophthisis 1, juvenile
NPHP3 Nephronophthisis 3; Meckel syndrome 7;
Renal-hepatic-pancreatic dysplasia 1
NPHP4 Senior-Loken syndrome 4
SDCCAG8 Senior-Loken syndrome 7; Bardet-Biedl syndrome 16
TRAF3IP1 Senior-Loken syndrome 9
WDR19 Senior-Loken syndrome 8; Nephronophthisis 13

Senior-Loken Syndrome

Published 05/10/2018

Senior-Loken Syndrome NGS panel

Genes: CEP290, INVS, IQCB1, NPHP1, NPHP3, NPHP4, SDCCAG8, TRAF3IP1, WDR19

List of diseases covered by the panel
Price / TAT: 1070 EUR / 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Ehlers-Danlos Syndrome NGS panel

Published 26/09/2018

Ehlers-Danlos Syndrome NGS panel

Genes
(full
coding region):		 ADAMTS2, AEBP1, ALDH18A1, ATP7A, ATP6V0A2, B3GALT6, B3GAT3, B4GALT7, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, C1R, C1S, GORAB, DSE, EFEMP2, ELN, FBLN5, FBN1, FKBP14, FLNA, LTBP4, PLOD1, PRDM5, PYCR1, SLC39A13, RIN2, SMAD3, TGFB2, TGFBR1, TGFBR2, TNXB, ZNF469

List of diseases covered by the panel
Price / TAT: 1070 EUR / 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

 

List of diseases covered by Maturity Onset Diabetes of the Young (MODY) NGS panel

Published 08/08/2018

List of diseases covered by
Maturity Onset Diabetes of the Young (MODY)
NGS panel

Gene Condition
ABCC8 Diabetes mellitus, noninsulin-dependent;
Diabetes mellitus, permanent neonatal; Diabetes mellitus, transient neonatal 2;
Hyperinsulinemic hypoglycemia, familial, 1;
Hypoglycemia of infancy, leucine-sensitive
BLK Maturity-onset diabetes of the young, type 11
CEL Maturity-onset diabetes of the young, type VIII
GCK Diabetes mellitus, noninsulin-dependent, late onset;
Diabetes mellitus, permanent neonatal;
Hyperinsulinemic hypoglycemia, familial, 3; MODY, type II
HNF1A Diabetes mellitus, insulin-dependent, 20;
MODY, type III; Renal cell carcinoma; Diabetes mellitus, insulin-dependent;
Diabetes mellitus, noninsulin-dependent, 2
HNF4A MODY, type I;
Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young;
Diabetes mellitus, noninsulin-dependent
HNF1B Diabetes mellitus, noninsulin-dependent;
Renal cysts and diabetes syndrome; Renal cell carcinoma
INS Diabetes mellitus, insulin-dependent, 2;
Diabetes mellitus, permanent neonatal; Hyperproinsulinemia;
Maturity-onset diabetes of the young, type 10
KCNJ11 Diabetes mellitus, transient neonatal, 3;
Diabetes, permanent neonatal, with or without neurologic features;
Hyperinsulinemic hypoglycemia, familial, 2;
Maturity-onset diabetes of the young, type 13;
Diabetes mellitus, type 2, susceptibility to
KLF11 Maturity-onset diabetes of the young, type VII2
NEUROD1 Maturity-onset diabetes of the young 6;
Diabetes mellitus, noninsulin-dependent
PAX4 Diabetes mellitus, type 2;
Maturity-onset diabetes of the young, type IX;
Diabetes mellitus, ketosis-prone, susceptibility to
PDX1 MODY, type IV; Pancreatic agenesis 1;
Diabetes mellitus, type II, susceptibility to
RFX6 Mitchell-Riley syndrome
ZFP57 Diabetes mellitus, transient neonatal, 1

List of diseases covered by Hypothyroidism and Thyroid Hormone Resistance NGS panel

Published 08/08/2018

List of diseases covered by
Hypothyroidism and Thyroid Hormone Resistance
NGS panel

Gene Condition
DUOX2 Thyroid dyshormonogenesis 6
DUOXA2 Thyroid dyshormonogenesis 5
GNAS McCune-Albright syndrome;
ACTH-independent macronodular adrenal hyperplasia;
Pseudohypoparathyroidism Ia; Pseudohypoparathyroidism Ib;
Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism;
Osseous heteroplasia, progressive
HESX1 Pituitary hormone deficiency, combined, 5
IYD Thyroid dyshormonogenesis 4
NKX2-1 Choreoathetosis, hypothyroidism,
and neonatal respiratory distress;
Chorea, hereditary benign; Thyroid cancer, nonmedullary, 1
NKX2-5 Hypothyroidism, congenital nongoitrous, 5;
Atrial septal defect 7, with or without AV conduction defects;
Conotruncal heart malformations, variable; Hypoplastic left heart syndrome 2;
Tetralogy of Fallot; Ventricular septal defect 3
PAX8 Hypothyroidism, congenital,
due to thyroid dysgenesis or hypoplasia
POU1F1 Pituitary hormone deficiency, combined, 1
PROP1 Pituitary hormone deficiency, combined, 2
SECISBP2 Thyroid hormone metabolism, abnormal
SLC5A5 Thyroid dyshormonogenesis 1
SLC16A2 Allan-Herndon-Dudley syndrome
SLC26A4 Pendred syndrome;
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
TG Thyroid dyshormonogenesis 3;
Autoimmune thyroid disease, susceptibility to, 3
THRA Hypothyroidism, congenital, nongoitrous, 6
THRB Thyroid hormone resistance;
Thyroid hormone resistance, autosomal recessive;
Thyroid hormone resistance, selective pituitary
TPO Thyroid dyshormonogenesis 2A
TRHR Thyrotropin-releasing hormone resistance, generalized
TSHB Hypothyroidism, congenital, nongoitrous 4
TSHR Hyperthyroidism, familial gestational;
Hyperthyroidism, nonautoimmune; Hypothyroidism, congenital, nongoitrous, 1

List of diseases covered by Combined Pituitary Hormone Deficiency NGS panel

Published 08/08/2018

List of diseases covered by
Combined Pituitary Hormone Deficiency NGS panel

Gene Condition
HESX1 Pituitary hormone deficiency, combined, 5
LHX3 Pituitary hormone deficiency, combined, 3
LHX4 Pituitary hormone deficiency, combined, 4
OTX2 Pituitary hormone deficiency, combined, 6;
Retinal dystrophy, early-onset, with or without pituitary dysfunction
POU1F1 Pituitary hormone deficiency, combined, 1
PROP1 Pituitary hormone deficiency, combined, 2