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Metabolic system

Location>Home>Metabolic system>M007:Cholestasis panel


Cholestasis is a group of disease caused by bile obstacle and/or impaired bile flow, and also known as cholestasis syndrome. It was divided into clinical intrahepatic and extrahepatic two types. Common diseases include bile acid synthesis defects, congenital glycosylation, familial high ursodeoxycholic hematic disease, and so on. Mygenostics cholestasis panel is to capture the cholestasis genes using target area capture technology and new generation of high-throughput sequencing technology. And in the meantime, it can be in early screening of patients with cholestasis, as well as to realize individualized medication and specificity of gene therapy to provide important basis for patients through combining with the history, clinical manifestation and information.
Cholestasis panel covers 40 diseases
1 Alagille syndrome
2 Alpha 1 antitrypsin deficiency
3 Amyloidosis
4 The joints bend, renal dysfunction, cholestasis
5 Congenital bile acid synthesis defect
6 citrin deficiency
7 Bjornstad syndrome
8 intrahepatic cholestasis
9 COACH syndrome
10 Combined Oxidative Phosphorylation Deficiency
11 Congenital disorders of glycosylation, CDG
12 cranioectodermal dysplasia
13 Crigler-Najjar syndrome
14 Neonatal congenital hypothyroidism
15 Gallbladder disease
16 Dihydro pyrimidine deficiency
17 Recurrent infections, with encephalopathy and liver dysfunction and cardiovascular malformation
18 Interstitial nephritis
19 3β-hydroxy steroid dehydrogenase defects
20 Mitochondrial complex III deficiency
21 galactosemia
22 fructosemia
23 multiple sulfatase deficiency
24 Lysosomal acid lipase deficiency
25 GRACILE syndrome
27 Familial hypercholanemia
28 Peroxidase biological origin of obstacles
29 Polycystic kidney disease
30 protoporphyria
31 Kidney liver pancreas dysplasia
32 Raynaud's syndrome
33 Ichthyosis-sclerosing cholangitis neonatal syndrome
34 Pro black hormone deficiency
35 tyrosinemia
36 Niemann Peak type
37 hematochromatosis
38 Gaucher disease
39 Glycogen storage disease type 4
40 high density lipoprotein deficiency