What NAWA tests for
A single blood sample screens thousands of inherited conditions across every major body system. Browse the full catalog below — searchable and filterable.
This is a curated educational catalogue of example conditions covered by the analysis. It is not the full list, and not every condition is detected with equal reliability — some require dedicated assays.
Includes the Saudi government premarital test
The government-mandated premarital screening covers sickle cell anemia and beta-thalassemia. Both are included in NAWA's panel — no separate visit, no extra step.
Beta-Thalassemia
Included in the government testCommon in Saudi ArabiaBloodAutosomal recessiveHBBReduced hemoglobin production causing lifelong anemia and dependence on transfusions in severe cases.
Sickle Cell Anemia
Included in the government testCommon in Saudi ArabiaBloodAutosomal recessiveHBBRed blood cells become sickle-shaped, causing pain crises and organ damage.
Alpha-Thalassemia
Common in Saudi ArabiaBloodAutosomal recessiveHBA1 · HBA2Reduced alpha-globin chain synthesis; severity ranges from silent carrier to hydrops fetalis.
G6PD Deficiency
Common in Saudi ArabiaBloodX-linked recessiveG6PDEnzyme deficiency causing red blood cell breakdown after certain foods, drugs, or infections.
Hemophilia A
BloodX-linked recessiveF8Deficiency of clotting factor VIII leading to prolonged bleeding.
Hemophilia B
BloodX-linked recessiveF9Deficiency of clotting factor IX leading to prolonged bleeding.
Phenylketonuria (PKU)
Common in Saudi ArabiaMetabolicAutosomal recessivePAHInability to break down phenylalanine; untreated causes intellectual disability.
Congenital Adrenal Hyperplasia
Common in Saudi ArabiaEndocrineAutosomal recessiveCYP21A2Hormone imbalance from birth affecting salt balance and sexual development.
Galactosemia
MetabolicAutosomal recessiveGALTInability to metabolize galactose from milk; causes liver damage if untreated.
MCAD Deficiency
MetabolicAutosomal recessiveACADMDefect in fatty acid oxidation causing dangerous low blood sugar episodes.
Nonsyndromic Hearing Loss (GJB2)
Common in Saudi ArabiaHearingAutosomal recessiveGJB2Most common genetic cause of hearing loss without other symptoms.
Familial Mediterranean Fever
Common in Saudi ArabiaOtherAutosomal recessiveMEFVRecurrent episodes of fever and painful inflammation of the abdomen, chest, or joints.
Gaucher Disease
MetabolicAutosomal recessiveGBALipid storage disorder affecting spleen, liver, bone marrow, and sometimes the brain.
Tay-Sachs Disease
MetabolicAutosomal recessiveHEXAProgressive neurological deterioration due to enzyme deficiency; onset in infancy.
Mucopolysaccharidosis I (Hurler)
MetabolicAutosomal recessiveIDUAProgressive multi-organ disorder from glycosaminoglycan accumulation.
Friedreich Ataxia
NeurologicalAutosomal recessiveFXNProgressive damage to nervous system and heart, with coordination loss.
Canavan Disease
NeurologicalAutosomal recessiveASPADegenerative brain disorder beginning in early infancy.
Long QT Syndrome
CardiacAutosomal dominantKCNQ1 · KCNH2 · SCN5AHeart rhythm disorder that can cause fainting, seizures, or sudden death.
Hypertrophic Cardiomyopathy
CardiacAutosomal dominantMYH7 · MYBPC3Thickening of the heart muscle; common cause of sudden cardiac death in young adults.
Familial Hypercholesterolemia
CardiacAutosomal dominantLDLR · APOB · PCSK9Very high LDL cholesterol from birth; early heart disease if untreated.
Severe Combined Immunodeficiency (SCID)
ImmuneX-linked recessiveIL2RG · ADA · JAK3Life-threatening lack of immune system function; needs early intervention.
Common Variable Immunodeficiency
ImmuneAutosomal dominantTNFRSF13B · ICOSReduced antibody production causing frequent infections.
Achondroplasia
SkeletalAutosomal dominantFGFR3Most common form of short-limbed dwarfism.
Osteogenesis Imperfecta
SkeletalAutosomal dominantCOL1A1 · COL1A2Brittle bones that break easily.
MODY (Maturity-Onset Diabetes of the Young)
EndocrineAutosomal dominantHNF1A · GCK · HNF4AInherited form of diabetes appearing in adolescence or young adulthood.
Retinitis Pigmentosa
VisionAutosomal recessiveRHO · USH2A · RPGRProgressive vision loss beginning with night blindness.
Leber Congenital Amaurosis
VisionAutosomal recessiveRPE65 · CEP290Severe vision loss present at birth; gene therapy available for some types.
Congenital Cataract
VisionAutosomal dominantCRYAA · GJA8Cloudy lens present at birth causing early vision impairment.
Usher Syndrome
HearingAutosomal recessiveUSH2A · MYO7ACombined hearing loss and progressive vision loss.
Polycystic Kidney Disease
KidneyAutosomal dominantPKD1 · PKD2Cysts progressively enlarge and impair kidney function.
Alport Syndrome
KidneyX-linked dominantCOL4A5 · COL4A3 · COL4A4Progressive kidney disease with hearing and eye involvement.
Cystinosis
KidneyAutosomal recessiveCTNSAccumulation of cystine damages kidneys and other organs.
Wilson Disease
LiverAutosomal recessiveATP7BCopper accumulation damaging liver and brain; treatable if caught early.
Alpha-1 Antitrypsin Deficiency
LiverAutosomal recessiveSERPINA1Can cause liver disease in children and lung disease (emphysema) in adults.
Hereditary Hemochromatosis
LiverAutosomal recessiveHFEIron overload damaging liver, heart, and pancreas.
Duchenne Muscular Dystrophy
MuscularX-linked recessiveDMDProgressive muscle weakness beginning in early childhood.
Becker Muscular Dystrophy
MuscularX-linked recessiveDMDMilder form of dystrophinopathy with later onset.
Myotonic Dystrophy
MuscularAutosomal dominantDMPK · CNBPMultisystem disorder with muscle stiffness and weakness.
Epidermolysis Bullosa
SkinAutosomal recessiveCOL7A1 · KRT5 · KRT14Extremely fragile skin that blisters from minor friction.
Congenital Ichthyosis
SkinAutosomal recessiveTGM1 · ABCA12Thick, scaly skin present from birth.
Cystic Fibrosis
RespiratoryAutosomal recessiveCFTRThick mucus damaging lungs and pancreas; life-shortening without treatment.
Primary Ciliary Dyskinesia
RespiratoryAutosomal recessiveDNAH5 · DNAI1Defective airway cilia causing chronic respiratory infections.
Androgen Insensitivity Syndrome
ReproductiveX-linked recessiveARCells do not respond to male hormones; affects sexual development.
Kallmann Syndrome
ReproductiveX-linked recessiveANOS1 · FGFR1Delayed or absent puberty with loss of smell.
Neurofibromatosis Type 1
MultisystemAutosomal dominantNF1Tumors growing on nerves along with skin and bone changes.
Marfan Syndrome
MultisystemAutosomal dominantFBN1Connective tissue disorder affecting heart, eyes, and skeleton.
Ehlers-Danlos Syndrome
MultisystemAutosomal dominantCOL5A1 · COL3A1Connective tissue disorder with joint hypermobility and fragile skin.
Tuberous Sclerosis Complex
MultisystemAutosomal dominantTSC1 · TSC2Benign tumors in multiple organs including brain, kidneys, and skin.
Rett Syndrome
MultisystemX-linked dominantMECP2Severe neurodevelopmental disorder affecting almost exclusively girls.
Hereditary Breast/Ovarian Cancer (BRCA1/BRCA2)
Cancer predispositionAutosomal dominantBRCA1 · BRCA2Substantially increased lifetime risk of breast, ovarian, and other cancers.
Lynch Syndrome
Cancer predispositionAutosomal dominantMLH1 · MSH2 · MSH6 · PMS2Increased risk of colon, endometrial, and other cancers, often at young ages.
Familial Adenomatous Polyposis
Cancer predispositionAutosomal dominantAPCHundreds of colon polyps that nearly always progress to cancer without surveillance.
Li-Fraumeni Syndrome
Cancer predispositionAutosomal dominantTP53High lifetime risk of multiple early-onset cancers.
Oculocutaneous Albinism
OtherAutosomal recessiveTYR · OCA2Reduced pigment in skin, hair, and eyes with vision problems.
Educational reference only, adapted from OMIM, Orphanet, and ClinGen. Not a diagnosis. A NAWA specialist explains what any result means for you and your partner.