Hereditary Disease DNA Screening
Every parent-to-be wants a healthy baby. DrGene's Hereditary Disease DNA test screens you and your partner for more than 200 genetic disorders that might be inherited by your child. Knowing this information can help you and your doctor take measures as early as possible to minimise the risk of your child having a genetic disorder.

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Service Details
Planning on starting a family?
Every parent-to-be wants a healthy baby. Take DrGene's Hereditary Disease DNA Screening to minimise the risk of your child having a genetic disorder.
  • Find out whether you are a carrier of any of the 200 genetic diseases screened in the test
  • Covers many of the most common genetic diseases, including Beta-thalassemia and certain hearing impairments
  • Tailored to people of Han Chinese origin
  • Designed to be taken by both parents
Why take the test?
DrGene's Hereditary Disease DNA Screening is ideal for couples planning a child. The test uses state-of-the-art techniques to search the genetic code of both parents for indications of a wide variety of genetic diseases. This information may provide reassurance that the baby has a low risk of the most common genetic disorders, or could even be used to ensure that your baby does not inherit a potentially life-threatening disease.
Many babies with genetic diseases are born to healthy parents. This is because one or both parents carry a gene that causes the disease. Many people are not aware that they are carriers of genetic diseases – they are young, healthy and have no family history of the disease.
The Hereditary Disease DNA Screening tests for recessive genetic disorders. In these diseases, the parents will be completely healthy and unaware that they carry a gene that can cause disease. If only one parent carries the recessive gene, the baby will also be healthy. However, if both parents carry the recessive gene, there is a 25% chance that their baby will be affected by the disease.
DrGene: testing tailored to you
DrGene offers a comprehensive Hereditary Disease DNA Screening uniquely tailored to people of Han Chinese origin. The test focuses on the most common genetic diseases in the Chinese population, including Beta-thalassemia, Wilson's disease and certain hearing impairments. Although most of these disorders are currently incurable, they can be prevented.
If the test reveals that both parents carry the same recessive gene, they may choose to use this information to consult with a doctor and take steps to ensure that they have a healthy child.
Quick and simple
DrGene Hereditary Disease DNA Screening is quick, easy and non-invasive. You will receive a DrGene DNA collection kit by mail. All you need to do is provide a small sample of saliva/swab and post the kit back to us. Your sample will be sent to a specialist laboratory for analysis. Within 4-6 weeks you will be able to view your results on our secure website.
It is recommended that both potential parents take the test, as children inherit two copies of every gene: one from their mother and one from their father.
Over 200 conditions screened
DrGene's Hereditary Disease DNA Screening covers over 200 conditions, including:
Beta Thalassemia
Beta (β) thalassemia is a relatively common genetic disorder that reduces the ability of the blood to carry oxygen. This occurs because of a mutation in the gene that controls production of haemoglobin, the protein that carries oxygen within red blood cells. The disease also reduces the number of red blood cells in the body, leading to severe anaemia. In Hong Kong, around 5% of people may be carriers of the gene mutation causing beta thalassemia.
Wilson disease
Wilson disease is the most common inherited liver disorder among Han Chinese people. It occurs in up to 1 in every 5,400 Han Chinese people.
Nonsyndromic hearing loss
Nonsyndromic hearing loss is defined by deafness that is not associated with any other health problems. Around 30,000 babies are born with congenital hearing loss in China every year. Around 1 in 22 Han Chinese people are carriers of genetic mutations that can cause hearing loss.
Pompe Disease
Pompe disease, also known as Glycogen Storage Disease Type II, is a serious condition that can cause muscle weakness and organ damage. Around 1 in every 112 Chinese people is a carrier of the mutation causing Pompe disease.
Phenylketonuria (PKU)
PKU is a genetic condition that can cause developmental delays and intellectual disability. It affects 1 in every 11,500 and is carried by 1 in 51 Chinese people.
DrGene recommends receiving genetic counselling prior to selecting a genetic test for yourself or your family. There may be considerations in regards to the type of test to be selected, and only a qualified healthcare professional may offer advice on the basis of an individual's personal history and risk profile. This test detects for a selected number of point mutations, but does not sequence the entire gene nor detects large deletions and duplications. Should you require information about availability of genetic counselling, our team would be happy to assist you.
Detection of Condition
Name of ConditionGeneOMIM
3-methylglutaconic aciduria, type IIIOPA3258501
Abetalipoproteinemia; ABLMTTP200100
Achondroplasia FGFR3100800
Acrodermatitis enteropathicaSLC39A4201100
Acyl-CoA dehydrogenase deficiency, short-chainACADS201470
Acyl-CoA dehydrogenase, very long-chainACADVL201475
Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiencyCYP21A2201910
Adrenal Hyperplasia, congenital, due to Steroid 11-beta-hydroxylase deficiencyCYP11B1202010
Adrenocorticotropic hormone deficiencyTBX19201400
Adrenoleukodystrophy; ALDABCD1300100
Adult I phenotype with congenital cataractGCNT2110800
Alkaptonuria HGD203500
Alport Syndrome, x-linked; ATSCOL4A5301050
Argininosuccinic aciduriaASL207900
Arthropathy, progressive pseudorheumatoid, of childhood WISP3208230
Atrichia with papular lesionsHR209500
Autoimmune polyendocrinopathy syndrome , type IAIRE240300
Bardet-Biedl syndrome 1BBS1209900
Bardet-Biedl syndrome 10BBS10615987
Bardet-Biedl syndrome 2 BBS2615981
Bardet-Biedl syndrome 3 ARL6600151
Bardet-Biedl syndrome 4 BBS4615982
Bartter syndrome, type 3 CLCNKB607364
Bartter syndrome, type 4a BSND602522
Biotinidase Deficiency BTD253260
Bloom syndromeBLM210900
Brittle cornea syndrome 1ZNF469229200
Butirilcholinesterase deficiency BCHE177400
Canavan DiseaseASPA271900
Carbamoylphosphate synthetase I deficiencyCPS1237300
Cardiomyopathy, dilated, 1GGSDHA613490
Carnitine palmitoyltransferase 1 deficiencyCPT1A255120
Carnitine-acylcarnitine translocase deficiencySLC25A20212138
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndromeSNAP29609508
Cerebrotendinous xanthomatosisCYP27A1213700
Chronic granulomatous disease due to deficiency of NCF-1NCF1233700
Citrullinemia, ClassicASS1215700
Citrullinemia, type II, neonatal-onsetSLC25A13222600
Cockayne syndrome, type AERCC8216400
Cockayne syndrome, type BERCC6133540
Combined factor V and VIII deficiency LMAN1227300
Complex hereditary spastic paraparesisPLAANot assigned
Cone-Rod Dystrophy Type 3ABCA4604116
Congenital disorder of deglycosylationNGLY1615273
Cornelia de Lange like (Birk Flusser) syndrome FRMD4ANot assigned
CPT deficiency, hepatic, type IICPT2600649
Cystic fibrosisCFTR219700
Cystinosis, CTNS-RelatedCTNS219800
Deafness nonsyndromicDFNB59610220
Deafness, autosomal recessive 1AGJB2220290
Deafness, autosomal recessive 1AGJB3220290
Deafness, autosomal recessive 22OTOA607039
Deafness, autosomal recessive 3MYO15A600316
Deafness, autosomal recessive 30MYO3A607101
Deafness, autosomal recessive 7TMC1600974
Deafness, autosomal recessive 8/10TMPRSS3601072
Deafness, mitochondrialTRMU613070
Deafness, Nonsyndromic Sensorineural, MitochondrialMTRNR1500008
Diabetes insipidus, nephrogenic AQP2125800
Dihydrolipoamide Dehydrogenase Deficiency, a.k.a. Maple Syrup Urine Disease Type IIIDLD246900
Dihydropyrimidine dehydrogenase deficiencyDPYD612779
Duchenne muscular dystrophyDMD310200
Dysautonomia, familialIKBKAP223900
Emphysema, Hemorrhagic diathesi ETFDH613490
Emphysema, Hemorrhagic diathesi (Alpha 1-antitrypsin)SERPINA1613490
Enhanced S-cone syndromeNR2E3268100
Epidermolysis bullosa, junctional, non-Herlitz typeLAMB3226700
Fanconi Anemia Complementation Group AFANCA227650
Fanconi Anemia Complementation Group CFANCC227645
Fanconi-Bickel syndromeSLC2A2227810
Fructose intoleranceALDOB229600
Fundus albipunctatusRDH5136880
Gaucher disease, Type IGBA230800
Glanzmann thrombastheniaITGA2B273800
Glanzmann thrombastheniaITGB3273800
Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset CYP1B1231300
Glutaricaciduria Type IGCDH231670
Glycine EncephalopathyGLDC605899
Glycine Encephalopathy, AMT-RelatedAMT605899
Glycogen storage disease 1bSLC37A4232220
Glycogen storage disease IaG6PC232200
Glycogen storage disease IIIAGL232400
Gray platelet syndromeNBEAL2139090
Growth hormone deficiency, isolated, type IA GH1262400
Haim-Munk syndromeCTSC245010
Hemoglobinopathies (Including Sickle-Cell Anemia and Beta Thalassemia, Hb C, D, E, O)HBB603903, 613985
Hermansky-Pudlak syndrome 3HPS3614072
Hermansky-Pudlak syndrome 6HPS6614075
HMG-CoA lyase deficiencyHMGCL246450
Hyperinsulinemic hypoglycemia, familial, 1ABCC8256450
Hyperoxaluria, primary, type 1AGXT259900
Hyperoxaluria, primary, type IIIHOGA1613616
Hyperphenylalaninemia, BH4-deficient, APTS601457
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosisSARS2613845
Hypoaldosteronism, congenital, due to CMO II deficiency CYP11B2610600
Hypomagnesemia 1, intestinal TRPM6602014
Hypoparathyroidism-retardation-dysmorphism syndromeTBCE241410
Hypophosphatasia, infantileALPL241500
Hypothyroidism, congenital, nongoitrous, 1TSHR275200
Inclusion body myopathy, autosomal recessive - GNEGNE600737
Infantile neuroaxonal dystrophy 1PLA2G6256600
Insensitivity to pain, congenitalSCN9A243000
Insensitivity to pain, congenital, with anhidrosisNTRK1256800
Isovaleric acidemiaIVD243500
Joubert syndrome 2TMEM216608091
Kohlschutter-Tonz syndromeROGDI226750
Krabbe diseaseGALC245200
Laron dwarfismGHR262500
Laryngoonychocutaneous SyndromeLAMA3226700
Leber congenital amaurosis 2RPE65204100
Leber congenital amaurosis 4AIPL1604393
Leber congenital amaurosis 5LCA5604537
Leber congenital amaurosis 8CRB1613835
Leigh syndrome, due to COX deficiencySURF1256000
Lethal congenital contractural syndrome 3PIP5K1C611369
Lethal congenital contracture syndrome 4MYBPC1614915
Leukodystrophy, hypomyelinating, 3 AIMP1260600
Leukodystrophy, hypomyelinating, 4 HSPD1612233
Lipodystrophy, congenital generalized, type 2BSCL2269700
Mandibuloacral dysplasiaLMNA248370
Maple syrup urine disease, type IaBCKDHA248600
Maple syrup urine disease, type IbBCKDHB248600
Maple syrup urine disease, type IIDBT248600
Megalencephalic leukoencephalopathy with subcortical cystsMLC1604004
Megaloblastic anemia-1, Norwegian typeAMN261100
Metachromatic leukodystrophyARSA250100
Methylmalonic acidemia, mut(0) typeMUT251000
Methylmalonic aciduria and homocystinuria, cblC typeMMACHC277400
Microcephaly, postnatal progressive, with seizures and brain atrophyMED17613668
Minicore myopathy with external ophthalmoplegiaRYR1255320
Mitochondrial complex I deficiencyNDUFA11252010
Mitochondrial complex III deficiency, nuclear type 4 UQCRQ615159
Mitochondrial DNA depletion syndrome 2 (myopathic type) TK2609560
Mitochondrial myopathy and sideroblastic anemia 1PUS1600462
Mitochondrial respiratory chain complex I deficiencyNDUFS6252010
Molybdenum cofactor deficiency AMOCS1252150
Mucolipidosis III gamma GNPTG252605
Mucolipidosis Type IVMCOLN1252650
Mucopolysaccharidisis type IIIA (Sanfilippo A)SGSH252900
Mucopolysaccharidosis IhIDUA607014
Muscular dystrophy, limb-girdle, type 2BDYSF253601
Muscular dystrophy, limb-girdle, type 2CSGCG253700
Muscular dystrophy, limb-girdle, type 2DSGCA252900
Muscular dystrophy, limb-girdle, type 2ESGCB252900
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5FKRP607155
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiencyRAPSN608931
Nemaline myopathy 2, autosomal recessiveNEB256030
Nephronophthisis 2, infantile INVS602088
Nephrotic syndrome type 1NPHS1256300
Neuronopathy, distal hereditary motor, type VA; HMN5AGARS600794
Neuronopathy, distal hereditary motor, type VIIGHMBP2604320
Niemann-Pick Disease Type B, SMPD1-RelatedSMPD1257200, 607616
Nijmegen breakage syndromeNBN233700
Oculocutaneous Albinism Type I, TYR-RelatedTYR203100
Osteopetrosis, autosomal recessive 1 TCIRG1259700
Otospondylomegaepiphyseal dysplasia COL11A2215150
Pendred syndromeSLC26A4274600
Peroxisome biogenesis disorder 1A (Zellweger)PEX1214100
Peroxisome biogenesis disorder 5A (Zellweger)PEX2614866
Phenylalanine hydroxylase deficiency (including phenylketonuria)PAH261600
Polycystic kidney and hepatic disease DGUOK263200
Polycystic kidney and hepatic disease DHCR24263200
Polycystic kidney and hepatic disease DHCR7263200
Polycystic kidney and hepatic disease DOLK263200
Polycystic kidney and hepatic disease EOGT263200
Polycystic kidney and hepatic disease ERBB3263200
Polycystic kidney and hepatic disease ERCC5263200
Polycystic Kidney and Hepatic Disease, PKHD1-RelatedPKHD1312080
Polymicrogyria, bilateral frontoparietalGPR56606854
Pompe (Glycogen storage disease type II)GAA232300
Pontocerebellar hypoplasia type 2DSEPSECS613811
Pontocerebellar hypoplasia, type 2E VPS53615851
Prolidase deficiencyPEPD170100
Propionic acidemiaPCCA606054
Propionic acidemiaPCCB606054
Retinitis pigmentosa 14TULP1600132
Retinitis pigmentosa 25EYS602772
Retinitis pigmentosa 26CERKL608380
Retinitis pigmentosa 28FAM161A606068
Retinitis pigmentosa 36PRCD610599
Retinitis pigmentosa 57PDE6G613582
Retinitis pigmentosa 59DHDDS613861
Retinitis pigmentosa 64 C8ORF37614500
Retinoschisis RS1312700
Rickets, vitamin D-resistant, type IIA VDR277440
Sandhoff disease, infantile, juvenile, and adult forms HEXB268800
Severe combined immunodeficiency, B cell-negativeRAG1601457
Severe combined immunodeficiency, B cell-negativeRAG2601457
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosisPOC1A614813
Sialic acid storage disorder, infantileSLC17A5269920
Spastic paraplegia 53, autosomal recessive VPS37A614898
Striatonigral degeneration, infantileNUP62271930
Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome –LIFR geneLIFR601559
Tay-Sachs diseaseHEXA272800
Tumoral calcinosis, familial, normophosphatemicSAMD9610455
Tyrosinemia, type IFAH276700
Tyrosinemia, type III HPD276710
Usher syndrome, type 1BMYO7A276900
Usher syndrome, type 1DCDH23601386
Usher syndrome, type 1FPCDH15602083
Usher syndrome, type 2AUSH2A276901
Usher syndrome, type 3ACLRN1276902
Ventricular tachycardia, catecholaminergic polymorphic, 2CASQ2611938
Wilson diseaseATP7B277900
Wolman diseaseLIPA278000

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