List of diseases covered by Nephronophthisis NGS panel

Published 12/08/2019

List of diseases covered by
Nephronophthisis NGS panel

Gene Condition
ANKS6 Nephronophthisis 16
CEP83 Nephronophthisis 18
CEP164 Nephronophthisis 15
CEP290 Bardet-Biedl syndrome 14;
Joubert syndrome 5; Leber congenital amaurosis 10;
Meckel syndrome 4; Senior-Loken syndrome 6
DCDC2 Nephronophthisis 19;
Deafness, autosomal recessive 66; Sclerosing cholangitis, neonatal
GLIS2 Nephronophthisis 7
INVS Nephronophthisis 2, infantile
IFT172 Retinitis pigmentosa 71;
Short-rib thoracic dysplasia 10 with or without polydactyly
IQCB1 Senior-Loken syndrome 5
NEK8 Nephronophthisis 9;
Renal-hepatic-pancreatic dysplasia 2
NPHP1 Joubert syndrome 4;
Nephronophthisis 1, juvenile; Senior-Loken syndrome-1
NPHP3 Meckel syndrome 7; Nephronophthisis 3;
Renal-hepatic-pancreatic dysplasia 1
NPHP4 Senior-Loken syndrome 4
RPGRIP1L COACH syndrome; Joubert syndrome 7;
Meckel syndrome 5
SDCCAG8 Bardet-Biedl syndrome 16;
Senior-Loken syndrome 7
TMEM67 RHYNS syndrome; COACH syndrome;
Joubert syndrome 6; Meckel syndrome 3; Nephronophthisis 11
TTC21B Short-rib thoracic dysplasia 4 with or without polydactyly;
Nephronophthisis 12
WDR19 Senior-Loken syndrome 8; Nephronophthisis 13;
Short-rib thoracic dysplasia 5 with or without polydactyly;
Cranioectodermal dysplasia 4
XPNPEP3 Nephronophthisis-like nephropathy 1
ZNF423 Joubert syndrome 19

Nephronophthisis NGS panel

Published 12/08/2019

Nephronophthisis NGS panel

Genes
(full coding
regions):		 ANKS6, CEP83, CEP164, CEP290, DCDC2, GLIS2, INVS, IFT172, IQCB1, NEK8, NPHP1, NPHP3, NPHP4, RPGRIP1L, SDCCAG8, TMEM67, TTC21B, WDR19, XPNPEP3, ZNF423

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 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 Hemolytic Uremic Syndrome NGS panel

Published 12/08/2019

List of diseases covered by
Hemolytic Uremic Syndrome NGS panel

Gene Condition
ADAMTS13 Thrombotic thrombocytopenic purpura,
familial
C3 C3 deficiency; Hemolytic uremic syndrome,
atypical, susceptibility to, 5; Macular degeneration, age-related, 9
CD46 Hemolytic uremic syndrome, atypical,
susceptibility to, 2
CFB Complement factor B deficiency;
Hemolytic uremic syndrome, atypical, susceptibility to, 4;
CFH Complement factor H deficiency;
Hemolytic uremic syndrome, atypical, susceptibility to, 1;
Macular degeneration, age-related, 4; Basal laminar drusen
CFHR1 Hemolytic uremic syndrome, atypical,
susceptibility to
CFHR3 Hemolytic uremic syndrome, atypical,
susceptibility to
CFHR5 Nephropathy due to CFHR5 deficiency
CFI Complement factor I deficiency;
Hemolytic uremic syndrome, atypical, susceptibility to, 3;
Macular degeneration, age-related, 13, susceptibility to
DGKE Nephrotic syndrome, type 7;
Hemolytic uremic syndrome, atypical, susceptibility to, 7
THBD Thrombophilia due to thrombomodulin defect;
Hemolytic uremic syndrome, atypical, susceptibility to, 6

Ciliopathy NGS panel

Published 08/08/2019

Ciliopathy NGS panel

Genes
(full
coding
region):		 ACVR2B, ADGRV1, AHI1, AIPL1, ALMS1, ANKS6, ARL13B, ARL6, ARMC4, ATXN10, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C2CD3, C2ORF71, C5ORF42, C8ORF37, C21ORF2, C21ORF59, CC2D2A, CCDC103, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC65, CCNO, CDH23, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CFTR, CLRN1, CRB1, CSPP1, DCDC2, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAL1, DRC1, DYNC2H1, EVC, EVC2, FOXH1, GAS8, GDF1, GLIS2, IFT43, IFT80, IFT122, IFT140, IFT172, INPP5E, INVS, IQCB1, KIAA0586, KIF7, LEFTY2, LRRC6, MCIDAS, MKKS, MKS1, NEK1, NEK8, NME8, NODAL, NPHP1, NPHP3, NPHP4, OFD1, PDE6D, PKD2, PKHD1, RPGR, RPGRIP1, RPGRIP1L, RSPH1, RSPH3, RSPH4A, RSPH9, SDCCAG8, SPAG1, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TOPORS, TRIM32, TTC21B, TTC8, WDPCP, WDR19, WDR34, WDR35, WDR60, XPNPEP3, ZIC3, ZMYND10, ZNF423

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 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

Bardet-Biedl Syndrome NGS panel

Published 08/08/2019

Bardet-Biedl Syndrome NGS panel

Genes
(full coding
region):		 ALMS1 (excluding exon 8), ARL6, BBIP1, BBS1, BBS2, BBS4, BBS5, BBS7, BBS9, BBS10, BBS12, CCDC28B, CEP290, GNAS, IFT27, IFT172, LZTFL1, MKKS, MKS1, PHF6, SDCCAG8, TMEM67, TRIM32, TTC8, WDPCP

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 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

Asper Nephrology

Published 08/08/2019

Asper Nephrology

Bardet Biedl Syndrome
Bartter Syndrome
Branchiootorenal Syndrome
Ciliopathy
Hemolytic Uremic Syndrome
Hypomagnesemia
Nephronophthisis
Nephrotic Syndrome
Polycystic Kidney Disease
Primary Ciliary Dyskinesia
Senior-Loken Syndrome
Whole Exome Sequencing

Asper Nephrology offers gene panels for the diagnostics of hereditary renal diseases, including common monogenic diseases such as polycystic kidney disease, as well as complex disorders. To establish the genetic cause of renal diseases we use next-generation sequencing technology to accommodate a broad differential diagnosis. CNV analysis based on sequencing data is also available to enhance gene identification. Pathogenic/likely pathogenic findings are confirmed using additional technologies.

Accurate diagnosis of the precise genetic cause of the renal disorder is essential for genetic counseling and prediction of risks for affected individuals; furthermore, it allows prenatal diagnosis or pre-implantation genetic diagnosis.

 

Asper Cardiogenetics updates

Published 19/07/2019

We now offer an NGS panel for Hereditary Hemorrhagic Telangiectasia. Additionally, Noonan Syndrome test has been upgraded to Noonan Spectrum Disorders/Rasopathies test including several new disease-causing genes. All NGS panels in Asper Cardiogenetics testing menu are covered by CNV analysis based on sequencing data. Visit https://www.asperbio.com/asper-cardiogenetics/ to learn more.

List of diseases covered by Hereditary Hemorrhagic Telangiectasia NGS panel

Published 18/07/2019

List of diseases covered by
Hereditary Hemorrhagic Telangiectasia NGS panel

Gene Condition
ACVRL1 Telangiectasia, hereditary hemorrhagic, type 2
ENG Telangiectasia, hereditary hemorrhagic, type 1
GDF2 Telangiectasia, hereditary hemorrhagic, type 5
RASA1 Capillary malformation-arteriovenous malformation 1
SMAD4 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;
Myhre syndrome; Polyposis, juvenile intestinal

Hereditary Hemorrhagic Telangiectasia NGS panel

Published 18/07/2019

Hereditary Hemorrhagic Telangiectasia NGS panel

Genes
(full coding
region):		 ACVRL1, ENG, GDF2, RASA1, SMAD4

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 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

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Differential diagnosis
  3. Testing at-risk asymptomatic individuals
  4. Prenatal diagnosis for known familial mutation
  5. Genetic counseling

Hereditary hemorrhagic telangiectasia (HHT) is characterized by the presence of multiple arteriovenous malformations (AVMs) that lack intervening capillaries and result in direct connections between arteries and veins.

Spontaneous recurrent nosebleeds are the most common and usually earliest clinical manifestation of HHT. Telangiectases are found primarily on the lips, tongue, buccal mucosa, face, chest, and fingers. AVMs occur most commonly in the lungs, liver, and brain. Major complications of HHT include severe anaemia from chronic nasal and gastrointestinal haemorrhage, stroke, deep venous thromboses, and severe pulmonary hypertension.

HHT affects 1 in 5–8000, and is inherited as an autosomal-dominant trait.

References:

Govani FS Shovlin CL 2009. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet. 2009 Jul; 17(7): 860–871. Published online 2009 Apr 1. doi: 10.1038/ejhg.2009.35
Kjeldsen ADet al 1999. Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients. J Intern Med. 1999;245:31–39.
McDonald J and Pyeritz RE 2000. Hereditary Hemorrhagic Telangiectasia. GeneReviews®. Last Update: February 2, 2017.

Noonan Spectrum Disorders/Rasopathies NGS panel

Published 23/03/2017

Noonan Spectrum Disorders/Rasopathies NGS panel

Genes
(full
coding
region):		 A2ML1, ACTB, ACTG1, BRAF, CBL, CHD7, DHCR7, ELN, EPHB4, FGD1, HRAS, JAG1, KAT6B, KDM6A, KMT2D, KRAS, LZTR1, MAP2K1, MAP2K2, MRAS, NCF1, NF1, NOTCH2, NRAS, PPP1CB, PTPN11, RAF1, RAI1, RASA1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1, TBX1

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 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 of selected regions

Lab method: Chromosomal Microarray Analysis
TAT: 2-4 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. Parental testing in case of a causative mutation has been identified in an affected  individual
  3. Genetic counseling
  4. Prenatal diagnosis