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Description:
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List of testing items

Subject

Test content

Endocrinology

Pheochromocytoma and Paraganglioma (PPGL), Primary Aldosterone Syndrome (PA), Cushing Syndrome (CS)

CAH, addison, high progesterone (21-OHD)

Low / high potassium sodium calcium magnesium phosphate (low potassium, hypocalcemia, etc.)

Glucose metabolism (MODY, newborn, fat atrophy, hyperinsulin, syndrome disease, hypoglycemia, insulin resistance, etc.)

Thyroid and parathyroid glands (hypothyroidism, dysplasia, hormone resistance, parathyroidism / hyperthyroidism, etc.)

Sexual development (small testis, small penis, small scrotum, hyposexuality, sexual immaturity, precocious puberty, hirsutism, polycystic ovary, hermaphroditism, hypospadias, cryptorchidism, primary amenorrhea, azoospermia, low / high Hormones, etc.)

Obesity (cushing, prder-willi syndrome, etc.)

Pituitary (large limb, diabetes insipidus, combined pituitary deficiency, hypogonadism, etc.)

Short (growth hormone deficiency, insensitivity, osteogenesis imperfecta, rickets, pituitary, thyroid, etc.)

Gastroenterology / Infectious Diseases

Hyperlipidemia (high cholesterol, high triglycerides, high apolipoprotein, etc.)

Metabolic liver disease (jaundice, copper ion metabolism, cholestasis, hepatosplenomegaly, cirrhosis, GGT, ALP, aminotransferase abnormalities, etc.)

Bilirubin abnormalities (gilbert, dubin, rotor, etc.)

Abnormal lipid metabolism (cholestasis, bile acid synthesis disorders, hyperlipidemia, etc.)

Abnormal enzyme metabolism (porphyria, protease deficiency, sulfatase deficiency, etc.)

Metal elements (wilson, hemochromatosis, etc.)

Amino acid metabolism abnormalities (Hitlin protein deficiency, citrullineemia, etc.)

Abnormal glucose metabolism (glycosylation, glycogen accumulation, fructose, galactose, mucopolysaccharidosis, etc.)

Mitochondrial defects (lack of combined oxidative phosphorylation, lack of mitochondrial complexes, loss of mitochondrial DNA, etc.)

Dysplasia (alagille, liver fibrosis, cystic fibrosis, etc.)

Hereditary amyloidosis, hereditary colorectal polyposis

Orthopedics

Bone metabolism diseases (osteogenesis imperfecta, rickets, etc.), muscle weakness, ataxia, etc.

Division of Rheumatology

Auto-inflammatory diseases

ENT

deaf

Ophthalmology

Myopia, hyperopia, strabismus, glaucoma, etc.

Neurology / Surgery

Epilepsy, cerebral small blood vessels, large cerebral blood vessels, aneurysms, abnormal blood coagulation, etc.

Hematology

Anemia, spherocytosis, aplastic anemia, etc.

Nephrology / Urology

Renal wasting disease, hormone-resistant nephrotic syndrome, renal tubular hypoplasia, familial focal segmental glomerulosclerosis, polycystic kidney disease, etc.

Respiratory

Asthma, COPD, branch dilatation, pulmonary hypertension, pulmonary fibrosis, etc.

Cardiology

brugada syndrome, hypertrophic cardiomyopathy, long QT syndrome, dilated cardiomyopathy, etc.

Pediatrics

Mental retardation

 

Publication

1. Chen X, Jiang J, Zhu W, Wu Y, Su M. Next-generation sequencing (NGS) as a molecular diagnostic tool for hypertrophic cardiomyopathy in a Chinese boy due to novel compound heterozygous mutations in the MYBPC3 gene: A case report .Medicine (Baltimore). 2019 Mar; 98 (12): e14676. Doi: 10.1097 / MD.0000000000014676.

2. Qian Z, Cui X, Huang Y, Liu Y, Li N, Zheng S, Jiang J, Cui S. Novel mutations found in the ATP7B gene in Chinese patients with Wilson's disease. Mol Genet Genomic Med. 2019 May; 7 ( 5): e649. Doi: 10.1002 / mgg3.649. Epub 2019 Mar 18.

3. Miao H, Yu Z, Lu L, Zhu H, Auchus RJ, Liu J, Jiang J, Pan H, Gong F, Chen S, Lu Z. Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review.Steroids. 2019 Oct; 150: 108448. doi: 10.1016 / j.steroids.2019.108448. Epub 2019 Jul 11.

4. Ren Y, Xu LX, Liu YF, Xiang CY, Gao F, Wang Y, Bai T, Yin JH, Zhao YL, Yang JA novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family: A case report. Medicine (Baltimore). 2018 Sep; 97 (37): e12295. doi: 10.1097 / MD.0000000000012295. (acknowledgement)

5. Yuan X, Lu L, Chen S, Jiang J, Wang X, Liu Z, Zhu H, Pan H, Lu ZA Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report.BMC Endocr Disord. 2018 Sep 21; 18 (1): 68. Doi: 10.1186 / s12902-018-0295-6.

6. Fu R, Lu L, Jiang J, Nie M, Wang X, Lu ZA case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia. Medicine (Baltimore). 2017 May; 96 (21 ): e6994. doi: 10.1097 / MD.0000000000006994.

7. Jiang J, Wang HG, Wu WL, Peng XX. Mixed Dubin-Gilbert Syndrome: A Compound Heterozygous Phenotype of Two Novel Variants in ABCC2 Gene. Chin Med J (Engl). 2017 Apr 20; 130 (8): 1003- 1005.

8. Wang H, Guo J, Jiang J, Wu W, Chang X, Zhou H, Li Z, Zhao J. New genes associated with rheumatoid arthritis identified by gene expression profiling. Int J Immunogenet. 2017 Apr 2.

9. Tong A, Jiang J, Wang F, Li C, Zhang Y, Wu X. PURE ANDROGEN-PRODUCING ADRENAL TUMOR: CLINICAL FEATURES AND PATHOGENESIS. Endocr Pract. 2017 Jan 17.

10. Cui Y, Tong A, Jiang J, Wang F, Li C. Liddle syndrome: clinical and genetic profiles. J Clin Hypertens (Greenwich). 2016 Nov 29.

11. Tong A, Liu G, Wang F, Jiang J, Yan Z, Zhang D, Zhang Y, Cai JA Novel Phenotype of Familial Hyperaldosteronism Type III: Concurrence of Aldosteronism and Cushing's Syndrome. J Clin Endocrinol Metab. 2016 Nov; 101 ( 11): 4290-4297. Epub 2016 Jul 12.

12. Peng Xiangxin, Jiang Jun. Analysis of clinical and genetic characteristics of a Chinese Gilbert syndrome family. Chinese Medical Journal. 2010, 90 (24): 1690-1693. (Corresponding author)

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