【佳學基因檢測】腎消耗病9型基因解碼、基因檢測的報告有人解讀嗎？

遺傳病、罕見病基因檢測導讀:

腎消耗病9型是英文Nephronophthisis 9的中文翻譯。該病是一種基因病、遺傳病。佳學基因通過基因解碼找到了導致這一疾病發(fā)生的基因。可以通過基因檢測阻止腎消耗病9型在后代或者二胎中的出現(xiàn)。根據(jù)《人的基因序列變化與人體疾病表征》，該病屬于腎臟-泌尿系統(tǒng)疾病。

什么樣的人應當做腎消耗病9型基因解碼、基因檢測？

Nephronophthisis (NPH) is an autosomal recessive disease characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form). In the juvenile form, a urine concentration defect starts during the first decade, and a progressive deterioration of renal function is observed in the following years. Kidney size may be normal, but loss of corticomedullary differentiation is often observed, and cysts occur usually after patients have progressed to end-stage renal failure. Histologic lesions are characterized by tubular basement membrane anomalies, tubular atrophy, and interstitial fibrosis. The infantile form is characterized by cortical microcysts and progression to end-stage renal failure before 5 years of age. Some children present with extrarenal symptoms: retinitis pigmentosa (Senior-L?ken syndrome), mental retardation, cerebellar ataxia, bone anomalies, or liver fibrosis. Positional cloning and candidate gene approaches led to the identification of eight causative genes (NPHP1, 3, 4, 5, 6, 7, 8, and 9) responsible for the juvenile NPH and one gene NPHP2 for the infantile form. NPH and associated disorders are considered as ciliopathies, as all NPHP gene products are expressed in the primary cilia, similarly to the polycystic kidney disease (PKD) proteins.

佳學基因Nephronophthisis 9基因解碼、基因檢測大數(shù)據(jù)分析

Nephronophthisis 9致病鑒定基因解碼

Nephronophthisis 9基因解碼如何幫助婚戀和二胎生育

腎消耗病9型的數(shù)據(jù)庫代碼

根據(jù)《人的基因序列變化與人體疾病表征》，腎消耗病9型的數(shù)據(jù)庫代碼正在增定審核中，歡迎持續(xù)關注支持。

腎消耗病9型基因解碼、基因檢測的報告有人解讀嗎？

有的。佳學基因為解讀基因解碼、基因檢測報告成立了專門的機構。如果報告有不明確的地方，可以撥打4001601189，同佳學基因專業(yè)的基因解碼師、遺傳咨詢師進行一對一的溝通。(責任編輯：佳學基因)