Why Carrier Screening Matters
1 in 4
Couples Carry the Same Genetic Condition.
+
1
%
of Individuals Are Carriers of At Least One Condition.
~
1
%
of Rare Diseases have a genetic basis - According to UK's Rare Diseases Action Plan.
1 in 100
Couples in the UK are at risk of having a child affected by a serious recessive condition.
This Test is Highly Recommended for
Individuals or couples planning to start a family
People from ethnic backgrounds with a higher risk of specific genetic disorders
Anyone seeking proactive, genetics-based health insights
Those with a family history of inherited genetic conditions
Individuals or couples planning to start a family
People from ethnic backgrounds with a higher risk of specific genetic disorders
Anyone seeking proactive, genetics-based health insights
Those with a family history of inherited genetic conditions
Core Gene Panel Coverage: More Than 1000 Conditions Analysed
Analysis of key inherited conditions including cystic fibrosis, spinal muscular atrophy (SMA), Fragile X syndrome, and congenital bilateral absence of the vas deferens (CBAVD).
Expanded Panel Options
Broader screening that includes over 200 additional genes associated with inherited disorders such as cystinosis, Smith-Lemli-Opitz syndrome, Krabbe disease, Zellweger syndrome, and spinal cerebellar ataxias.
Haemoglobinopathies & Blood Disorders
Identification of gene variants linked to beta-thalassemia, alpha-thalassemia, sickle cell anaemia, and glucose-6-phosphate dehydrogenase (G6PD) deficiency.
Neuromuscular & Developmental Disorders
Screening for Duchenne muscular dystrophy, Becker muscular dystrophy, Rett syndrome, ataxia-telangiectasia, and spinal muscular atrophy (SMA).
Reproductive and Fertility-Related Conditions
Screening includes genes associated with infertility, premature ovarian failure, congenital absence of the vas deferens (linked to CFTR variants), and other hereditary reproductive syndromes that may impact family planning.
Lysosomal Storage Disorders
These progressive and often severe diseases (e.g. Gaucher, Niemann-Pick, Tay-Sachs) are frequently included in comprehensive panels due to their impact and carrier frequency.
Screening includes variants linked to lysosomal storage diseases such as Gaucher, Fabry, Niemann-Pick, and Pompe disease, which are often severe and clinically actionable.
Skeletal and Connective Tissue Disorders
Analysis of genes associated with conditions like osteogenesis imperfecta, Ehlers-Danlos syndromes, and various skeletal dysplasias, which are important for assessing potential carrier status in families with unexplained joint, spine, or bone issues.
Hearing and Vision Loss Syndromes
Includes carrier analysis for syndromes such as Usher syndrome, Pendred syndrome, and nonsyndromic forms of sensorineural hearing and vision impairment, many of which may go undetected without genetic screening.
Rare but Severe Syndromes
Identification of rare yet medically significant syndromes that may present early in life or lead to life-threatening outcomes. This includes high-impact variants with clear reproductive implications, such as spinal muscular atrophy (SMA), Fanconi anaemia, Tay-Sachs disease, Hurler syndrome, and Zellweger spectrum disorders. These conditions are highly penetrant and often go undetected without comprehensive carrier screening.
Ethnicity-Specific Conditions*
Inclusion of conditions with higher prevalence in specific populations: Tay-Sachs disease, Canavan disease, Gaucher disease, Bloom syndrome, Niemann-Pick disease type A, familial dysautonomia, Fanconi anaemia (Ashkenazi Jewish); beta-thalassemia (Mediterranean); sickle cell anaemia (African); and G6PD deficiency (Southeast Asian and Middle Eastern).
*Some genetic conditions are more prevalent in specific ethnic populations due to carrier frequency patterns observed in global genomic studies.
X-linked & Recessive Inheritance Mapping
Classification of each condition based on mode of inheritance, including autosomal recessive conditions, autosomal dominant conditions, and X-linked conditions such as ornithine transcarbamylase (OTC) deficiency, hemophilia A and B, and X-linked SCID.
Variant Detection & Classification
Identification of pathogenic, likely pathogenic, and variants of uncertain significance (VUS) using global guidelines and curated variant databases.
Risk Pairing for Partners
Combined carrier risk interpretation when both partners are tested, supporting informed reproductive decisions when both are carriers of the same condition.
What’s Included in Your Carrier Screening Report
A concise overview indicating whether any carrier variants were identified and their relevance to reproductive risk.
Specific information about the gene(s) where a variant was found, including the type of mutation and classification (e.g. pathogenic, likely pathogenic).
For each condition tested (e.g. cystic fibrosis, SMA, Fragile X), results are presented clearly with inheritance patterns and potential implications.
Each condition includes a visual or written explanation of whether it follows an autosomal recessive, X-linked, or dominant inheritance model.
Interpretation of your results in the context of your reported ethnic background, especially where certain variants are more prevalent.
If you are identified as a carrier, the report will outline whether partner or donor testing is advised.
A brief note explaining the remaining chance of being a carrier even if your result is negative, based on current technology limits.
Definitions and explanations of key genetic terms and variant classifications to help you better understand your results.
Clear guidance on whether further action is recommended, including the option for genetic counselling or clinical consultation.
How it Works: Steps After Purchasing
Step 1
Activate Your Kit
Go to www.szaportal.com/activate and register your kit using the unique Kit ID found inside your box. You’ll also be asked a few optional questions about your health history to help personalise your experience.
Step 2
Download the SZA Longevity App
Download the SZA Longevity app and log in with the same email you used during kit registration. This becomes your official account email.
step 3
Sync Your Health Data (optional)
Choose to sync with Apple Health, Google Fit, or Samsung Health to start tracking your health insights in one place.
step 4
Book Your Genetic Counselling Session
If you wish to explore your results with an expert, you can book a genetic counselling session directly in the app.
step 5
Collect and Return Your Sample
Follow the sample collection instructions in the leaflet inside the kit. Once done, seal your sample in the provided bag, place it into the sponge holder, and return it inside the original box using the prepaid return envelope.