描述
隐性遗传病带病者基因检测
隐性遗传病带病者基因检测为客户提供有关患者未来儿童患隐性遗传疾病风险的信息。隐性遗传病带病者基因检测在美国加洲经CAP, CLIA 证验，超过十年经处的基因实验室进行，利用新一代检测技术(Next Generation Sequencing) ，为有需要人仕作一项全面的「孕前筛查」。它遵循美国妇产科学院「ACOG」及美国医学遗传学院 (ACMG)的建议，筛查患者能够检查到超过170多种隐性遗传疾病项目。此项检测可了解自己是否有更大风险将遗传性疾病传给子女或未来儿童的人仕，或某些族群、遗传疾病家族史中的人仕也可受益于此测试。通过隐性遗传病带病者基因检测，父母可以了解将隐性遗传疾病传播给其子女的风险。如果父母双方均进行测试，便可以进行更全面的评估。
常见的隐性遗传病一览
脆性X综合征
带病率：女性1：151（一般人口）
脆性X综合征是导致一系列发育问题的遗传病症，包括学习障碍和认知障碍。通常情况下，男性受到这种疾病的影响比女性更严重。如果引起疾病的突变基因位于X染色体上，这个情况便被形容为X连结的。由于男性只有一条X染色体，每个细胞中基因的X染色体(唯一拷贝)突变便会导致发病。
受影响的个体通常在2岁以前延迟发言和言语。大多数具有脆弱X综合征的男性具有轻度至中度的智力障碍，而大约三分之一的受影响的女性在智力上是有障碍的。脆弱X综合症儿童也可能有焦虑和过度活跃，如躁动或冲动等。他们可能会出现注意力缺陷障碍（ADD），其中包括对注意力集中和特定任务困难的能力受损。约有三分之一的脆弱X综合征患者俱有自闭症谱系障碍的特征，影响着沟通和社会互动。
脊髓性肌萎缩（SMA）
带病率 1:54- 72
脊髓性肌萎缩（SMA）是导致渐进性肌肉无力和瘫痪的遗传性疾病。病发率为1/10,000，男女皆受影响。
SMA有三种类型。最严重的类型通常在出生的头几个月内诊断。受影响的儿童患有严重的肌肉无力，通常在2岁以前无法生存。
另外两种不同的SMA类型肌肉无力程度较小。大多数患者需要使用轮椅或走路辅助器。不太严重的人群的预期寿命从青少年到成年。
Pendred综合征
带病率：1:50（中国人）
这是一种通常与听力损失相关的疾病和称为甲状腺肿的甲状腺疾病。如果一名甲状腺肿发展成为Pendred综合征患者，则通常会在儿童期和成年早期之间形成。在大多数Pendred综合征患者中，在出生时便有明显目内耳变化引起的严重听力损失（感觉神经性听力损失）
苯丙酮尿症（俗称PKU）
带病率：1:53（中国人）
苯丙酮尿症是一种遗传性疾病，可以增加血液中称为苯丙氨酸的物质的含量。苯丙酮尿症的症状不同可从轻度到严重。这种疾病的最严重形式被称为典型的PKU。具有典型PKU的婴儿在几个月大时不易察觉。若果没有治疗的话，这些孩子会发展成为永久智障。癫痫发作，发育延迟，行为问题和精神疾病也很常见。
史密斯 – 莱姆 – 奥皮兹综合征
带病率：1：68（一般人口）
史密斯 – 莱姆 – 奥皮兹综合征是影响身体许多部位的发育障碍。这种情况的特点是面部特征异常，头部变小（小头症），智力障碍或学习问题以及行为问题。许多受影响的儿童具有自闭症的特征，影响孩子沟通和社会互动的能力。 。 Smith-Lemli-Opitz综合征的体征和症状差别很大。轻度受影响的个人可能只有轻微的身体异常与学习和行为问题。严重的病例可能危及生命，涉及深度的智障和重大身体异常。
威尔逊氏病
带病率：1：90（亚洲）
威尔逊氏病是一种遗传性疾病，由于会影响排铜异常，过多的铜会积聚在体内，特别是在肝，脑和眼的位置。威尔逊氏病的症状通常与脑和肝有关。肝脏相关症状包括呕吐，虚弱，腹部液体积累，腿部肿胀，皮肤黄色和瘙痒。脑相关症状包括震颤，肌肉僵硬，说话麻烦，人格变化，焦虑，以及看到或听到其他人没有的东西。大多数人会在5岁至35岁期间发病或被诊断，但也有机会影响年轻人和老年人。
β-贫血症
带病率：1：100（中国人）
地中海贫血症包括各种遗传性血液疾病，其中一些是相对温和的，另一些可能导致严重的贫血症和其他严重问题。地中海贫血症的体征和症状主要出现在2岁前。儿童会发展至危及生命的贫血。孩子体重会减慢或什至不会增加，或不能以预期的速度增长（未能发育），并可能会导致眼睛皮肤变黄（黄疸）。
Recessive Disease Carrier Status Full gene screening (>173 diseases)
| SCAD Deficiency 17-beta-hydroxysteroid dehydrogenase X deficiency 2-methylbutyryl-CoA Dehydrogenase Deficiency 3-hydroxyacyl-CoA dehydrogenase deficiency 3-Methylcrotonyl-CoA carboxylase 1 deficiency (MCC1D) 3-Methylcrotonyl-CoA carboxylase 2 deficiency (MCC2D) 3-methylglutaconic aciduria type I (MCGA1) 3-methylglutaconic aciduria, type III 3-methylglutaconic aciduria, type V Adrenoleukodystrophy Hb EE |
Hb Barts Hb C disease (Hb CC) Hb C/ Beta0 thalassemia Hb C/Beta+ thalassemia Hb D disease (Hb DD) Hb D/ Beta0 thalassemia Hb D/Beta+ thalassemia Hb E/ Beta0 thalassemia Hb E/Beta+ thalassemia |
| Alpha-methylacetoacetic aciduria (3-ketothialase deficiency) Argininemia (Arginase Deficiency) Arginosuccinic Aciduria Ault-onset citrullinemia Type II Autosomal dominant deafness Type 3A Autosomal dominant deafness Type IIB Autosomal dominant deafness Type IIIB Autosomal dominant persistent hypermethioninemia due to methionine adenosyltransferase I/III deficiency Autosomal recessive deafness Autosomal recessive deafness Type 1A |
Hb H (3 gene deletion) Hb H/Constant Spring disease Hb S/ Beta0 thalassemia Hb S/Beta + thalassemia Hb Variant/ Beta0 thalassemia Hb Variant/Beta+ thalassemia Hb variants, Alpha thalassemia Hemolytic anemia due to G6PD deficiency |
| Autosomal recessive deafness Type IB Autosomal recessive deafness type IV Autosomal recessive Methionine adenosyltransferase deficiency Barth Syndrome Bart-Pumphrey Syndrome Beta thalassemia major BH4-deficient Hyperphenylalaninemia A BH4-deficient Hyperphenylalaninemia B BH4-deficient Hyperphenylalaninemia C BH4-deficient Hyperphenylalaninemia D |
Hereditary persistence of fetal hemoglobin Hex A pseudodeficiency HMG-CoA Lyase Deficiency Holocarboxylase synthetase deficiency Homocystinuria due to MTHFR deficiency Homocystinuria, B6-responsive and nonresponsive types Hyperhomocysteinemic thrombosis Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Hystrix-like ichthyosis with deafness Isobutyryl-CoA dehydrogenase deficiency |
| Biotinidase deficiency Bloom Syndrome Canavan disease Carnitine-acylcarnitine translocase (CACT) deficiency cbl E complementation type homocystinuria-megaloblastic anemia cbl G complementation type homocystinuria-megaloblastic anemia cblB complement type Vitamin B-12 responsive methylmalonic aciduria (due to defect in synthesis of adenosylcobalamin) cblD complement type homocystinuria (Variant 1) cblD complement type homocystinuria (Variant 2) cblD complement type Methylmalonic aciduria and homocystinuria |
Isovaleric acidemia Keratitis ichthyosis deafness syndrome Krabbe disease LCHAD deficiency Lethal neonatal CPT2 deficiency Malonyl-CoA decarboxylase deficiency Maple syrup urine disease type II Maple syrup urine disease, type Ia Maple syrup urine disease, type Ib MCAD Deficiency |
| cblJ Type Methylmalonic aciduria and homocystinuria Citrullinemia Clouston type ectodermal dysplasia Type II Cogenital bilateral absence of the vas deferens (CVAD) Combined malonic and methylmalonic aciduria Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency Congenital hypothyroidism due to thyroid dysgenesis or hypoplasia Congenital nongoitrous hypothyroidism 1 Congenital nongoitrous hypothyroidism 4 Congenital nongoitrous hypothyroidism 6 |
Mental retardation X-linked syndromic 10 (MRXS10) Methylmalonic aciduria and homocystinuria, cblC type Methylmalonic aciduria due to Methylmalonyl-CoA Mutase deficiency Methylmalonic aciduria due to transcobalamin receptor defect Methylmalonyl-CoA epimerase deficiency Mucolipidosis IV Mucopolysaccharidosis Ih Mucopolysaccharidosis Ih/s Mucopolysaccharidosis Is Neonatal hypertrypsinemia |
| CPT2 deficiency associated myopathy Cystic Fibrosis Digenic deafness GJB2/GJB3 Digenic GJB2/GJB6 deafness Dihydrolipoamide dehydrogenase deficiency DOPA-responsive dystonia (with or without hyperphenylalaninemia) Erythrokeratodermia variabilis et progressiva Fabry disease Familial dilated cardiomyopathy Familial dysautonomia |
Neonatal onset citrullinemia Type II Niemann-Pick disease, type A Niemann-Pick disease, type B Niemann-Pick disease, type C1 Niemann-pick disease, type C2 Niemann-Pick disease, type D Nonautoimmune hyperthyroidism Non-classic hyperandrogenism due to 21-hydroxylase deficiency Non-PKU hyperphenylalanemia Optic atrophy 3 with cataract |
| Familial gestational hyperthyroidism Familial hyperinsulinemic hypoglycemia type 4 Favism Galactokinase deficiency with cataracts Galactose epimerase deficiency Galactosemia Gaucher disease Type I Gaucher disease Type II Gaucher disease Type III Gaucher disease Type IIIC |
Ornithine transcarbamylase deficiency Palmoplantar keratoderma with deafness Partial adenosine deaminase deficiency Pendred syndrome Perinatal lethal Gaucher disease Phenylketonuria Propionicacidemia Severe combined immunodeficiency (SCID) due to adenosine deaminase deficiency (ADAD) Sickle cell anemia (S/S) Sickle cell disease variants |
| Glutaric acidemia IIA Glutaric acidemia IIB Glutaric acidemia IIC Glutaric aciduria Type I Glycine N-methyltransferase deficiency Glycogen storage disease Ia Glycogen storage disease II GM2-gangliosidosis Hawkinsinuria |
Sickle hemoglobin C disease Sickle hemoglobin D disease Sickle hemoglobin E disease Susceptibility to acute-infection induced encephalopathy Susceptibility to autoimmune thyroid disease Type III Systemic primary carnitine deficiency Tay-Sachs disease Thryoid dyshormonogenesis 6 Thyroid dyshormonogenesis 1 |
| Fragile X Syndrome spinal muscular atrophy Vitamin B-12 responsive methylmalonic aciduria VLCAD deficiency Vohwinkel syndrome X-linked mental retardation with methylmalonic acidemia and homocysteinemia X-linked severe combined immunodeficiency (SCID) |
Thyroid dyshormonogenesis 2A Thyroid dyshormonogenesis 3 Thyroid hormone resistance Transcobalamin II deficiency Trifunctional protein deficiency Tyrosinemia, type I Tyrosinemia, type II Tyrosinemia, type III |
