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Complete list of conditions tested
Name
Gene
11-beta-hydroxylase-deficient congenital adrenal hyperplasia
CYP11B1
17-alpha-hydroxylase-deficient congenital adrenal hyperplasia
CYP17A1
21-hydroxylase deficient congenital adrenal hyperplasia
CYP21A2
3-beta-hydroxysteroid dehydrogenase type II deficient congenital adrenal hyperplasia
HSD3B2
3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency
HMGCL
ACAD9 deficiency
ACAD9
Abetalipoproteinemia
MTTP
Achromatopsia (CNGB3-related)
CNGB3
Acrodermatitis enteropathica
SLC39A4
Adenosine deaminase deficiency
ADA
Adrenoleukodystrophy, X-linked
ABCD1
Aicardi-Goutieres syndrome (SAMHD1-related)
SAMHD1
Aldosterone synthase deficiency
CYP11B2
Alpha thalassemia
HBA1, HBA2
Alpha-mannosidosis
MAN2B1
Alpha-thalassemia X-linked intellectual disability syndrome
ATRX
Alport syndrome (COL4A3-related)
COL4A3
Alport syndrome (COL4A4-related)
COL4A4
Alport syndrome, X-linked (COL4A5-related)
COL4A5
Alström syndrome
ALMS1
Andermann syndrome
SLC12A6
Arginase deficiency
ARG1
Argininosuccinic aciduria
ASL
Aromatase deficiency
CYP19A1
Asparagine synthetase deficiency
ASNS
Aspartylglucosaminuria
AGA
Ataxia with vitamin E deficiency
TTPA
Ataxia-telangiectasia
ATM
Autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia
AIRE
Autosomal recessive deafness 77 (DFNB77)
LOXHD1
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)
SACS
Bardet-Biedl syndrome (BBS1-related)
BBS1
Bardet-Biedl syndrome (BBS10-related)
BBS10
Bardet-Biedl syndrome (BBS12-related)
BBS12
Bardet-Biedl syndrome (BBS2-related)
BBS2
Bartter syndrome type IV
BSND
Beta-ketothiolase deficiency
ACAT1
Bloom syndrome
BLM
CFTR-related disorders
CFTR(5T)
Canavan disease
ASPA
Carbamoylphosphate synthetase I deficiency
CPS1
Carnitine palmitoyltransferase I deficiency
CPT1A
Carnitine palmitoyltransferase II deficiency
CPT2
Carpenter syndrome
RAB23
Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders
RMRP
Cerebrotendinous xanthomatosis
CYP27A1
Charcot-Marie-Tooth disease (NDRG1-related)
NDRG1
Charcot-Marie-Tooth disease, X-linked (GJB1-related)
GJB1
Chorea-acanthocytosis
VPS13A
Choroideremia
CHM
Chronic granulomatous disease (CYBA-related)
CYBA
Chronic granulomatous disease (CYBB-related)
CYBB
Citrin deficiency
SLC25A13
Citrullinemia type 1
ASS1
Cockayne syndrome type A
ERCC8
Cockayne syndrome type B
ERCC6
Cohen syndrome
VPS13B
Combined SAP deficiency
PSAP
Combined malonic and methylmalonic aciduria (ACSF3-related)
ACSF3
Combined oxidative phosphorylation deficiency (GFM1-related)
GFM1
Combined oxidative phosphorylation deficiency (TSFM-related)
TSFM
Combined pituitary hormone deficiency (LHX3-related)
LHX3
Combined pituitary hormone deficiency (PROP1-related)
PROP1
Congenital amegakaryocytic thrombocytopenia
MPL
Congenital disorders of glycosylation (ALG6-related)
ALG6
Congenital disorders of glycosylation (MPI-related)
MPI
Congenital disorders of glycosylation (PMM2-related)
PMM2
Congenital ichthyosis (TGM1-related)
TGM1
Congenital insensitivity to pain with anhidrosis
NTRK1
Congenital myasthenic syndrome (CHRNE-related)
CHRNE
Congenital myasthenic syndrome (RAPSN-related)
RAPSN
Congenital neutropenia (HAX1-related)
HAX1
Corneal dystrophy and perceptive deafness
SLC4A11
Creatine transporter deficiency, X-linked
SLC6A8
Cystic fibrosis
CFTR
Cystinosis
CTNS
D-bifunctional protein deficiency
HSD17B4
DHDDS-related disorders (including congenital disorder of glycoslylation/retinitis pigmentosa 59)
DHDDS
DMD-related dystrophinopathy (including Duchenne/Becker muscular dystrophy and dilated cardiomyopathy)
DMD
Dihydrolipoamide dehydrogenase deficiency (DLD)
DLD
Distal renal tubular acidosis with deafness (ATP6V1B1-related)
ATP6V1B1
Dysferlinopathy (including limb-girdle muscular dystrophy type 2B)
DYSF
Dyskeratosis congenita spectrum disorders (RTEL1-related)
RTEL1
Dystrophic epidermolysis bullosa (COL7A1-related)
COL7A1
Ehlers-Danlos syndrome type VIIC
ADAMTS2
Ellis-van Creveld syndrome (EVC-related)
EVC
Ellis-van Creveld syndrome (EVC2-related)
EVC2
Emery-Dreifuss muscular dystrophy (EMD-related)
EMD
Ethylmalonic encephalopathy
ETHE1
Fabry disease
GLA
Factor IX deficiency (hemophilia B)
F9
Familial chylomicronemia syndrome/lipoprotein lipase deficiency
LPL
Familial dysautonomia
ELP1
Familial hypercholesterolemia (LDLR-related)
LDLR
Familial hypercholesterolemia (LDLRAP1-related)
LDLRAP1
Familial hyperinsulinism (ABCC8-related)
ABCC8
Familial hyperinsulinism (KCNJ11-related)
KCNJ11
Fanconi anemia type A
FANCA
Fanconi anemia type C
FANCC
Fanconi anemia type G
FANCG
FKRP-related disorders (including Walker-Warburg syndrome)
FKRP
FKTN-related disorders (including Walker-Warburg syndrome)
FKTN
Fragile X syndrome
FMR1
Fumarate hydratase deficiency
FH
GJB2-related conditions (including DFNB1 nonsyndromic hearing loss and deafness)
GJB2
GRACILE syndrome/BCS1L-related disorders (including mitochondrial complex III deficiency, Bjornstad syndrome, Leigh syndrome)
BCS1L
Galactokinase deficiency galactosemia
GALK1
Galactosemia
GALT
Gaucher disease
GBA
Gitelman syndrome
SLC12A3
Glutaric acidemia type I
GCDH
Glutaric acidemia type II (ETFA-related)
ETFA
Glutaric acidemia type II (ETFDH-related)
ETFDH
Glycine encephalopathy (AMT-related)
AMT
Glycine encephalopathy (GLDC-related)
GLDC
Glycogen storage disease type II (Pompe disease)
GAA
Glycogen storage disease type III
AGL
Glycogen storage disease type IV/adult polyglucosan body disease
GBE1
Glycogen storage disease type Ia
G6PC
Glycogen storage disease type Ib
SLC37A4
Glycogen storage disease type V
PYGM
Glycogen storage disease type VII
PFKM
Guanidinoacetate methyltransferase deficiency
GAMT
HBB-related hemoglobinopathies (inc. beta thalassemia and sickle cell disease)
HBB
Hereditary fructose intolerance
ALDOB
Hereditary hemochromatosis (TFR2-related)
TFR2
Hermansky-Pudlak syndrome (HPS1-related)
HPS1
Hermansky-Pudlak syndrome (HPS3-related)
HPS3
Hexosaminidase A deficiency (Tay-Sachs disease)
HEXA
Holocarboxylase synthetase deficiency
HLCS
Homocystinuria (CBS-related)
CBS
Homocystinuria due to MTHFR deficiency
MTHFR
Homocystinuria, cobalamin E type
MTRR
Hydrolethalus syndrome type 1
HYLS1
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome
SLC25A15
Hypohidrotic ectodermal dysplasia (EDA-related)
EDA
Hypophosphatasia
ALPL
Inclusion body myopathy 2
GNE
Isovaleric acidemia
IVD
Joubert syndrome 2/TMEM216-related disorders
TMEM216
Joubert syndrome 7/RPGRIP1L-related disorders
RPGRIP1L
Junctional epidermolysis bullosa (LAMA3-related)
LAMA3
Junctional epidermolysis bullosa (LAMB3-related)
LAMB3
Junctional epidermolysis bullosa (LAMC2-related)
LAMC2
Juvenile hemochromatosis
HJV
Juvenile retinoschisis, X-linked
RS1
Krabbe disease
GALC
LAMA2-related muscular dystrophy
LAMA2
Leber congenital amaurosis 10/CEP290-related disorders
CEP290
Leber congenital amaurosis 13
RDH12
Leber congenital amaurosis 2
RPE65
Leber congenital amaurosis 5
LCA5
Leber congenital amaurosis 8/CRB1-related disorders
CRB1
Leigh syndrome, French Canadian type
LRPPRC
Lethal congenital contracture syndrome 1/lethal arthrogryposis with anterior horn cell disease
GLE1
Leukoencephalopathy with vanishing white matter (EIF2B5-related)
EIF2B5
Limb-girdle muscular dystrophy type 2A (calpainopathy)
CAPN3
Limb-girdle muscular dystrophy type 2C
SGCG
Limb-girdle muscular dystrophy type 2D
SGCA
Limb-girdle muscular dystrophy type 2E
SGCB
Lipoid congenital adrenal hyperplasia
STAR
Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
HADHA
Lysinuric protein intolerance
SLC7A7
Lysosomal acid lipase deficiency
LIPA
MKS1-related disorders
MKS1
Major histocompatibility complex class II deficiency
CIITA
Maple syrup urine disease (MSUD) type 1A
BCKDHA
Maple syrup urine disease (MSUD) type 1B
BCKDHB
Maple syrup urine disease (MSUD), type 2
DBT
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency
ACADM
Megalencephalic leukoencephalopathy with subcortical cysts type 1
MLC1
Menkes disease/ATP7A-related disorders (including occipital horn syndrome and distal hereditary motor neuropathy)
ATP7A
Metachromatic leukodystrophy
ARSA
Methylmalonic acidemia (MMAA-related)
MMAA
Methylmalonic acidemia (MMAB-related)
MMAB
Methylmalonic acidemia (MUT-related)
MUT
Methylmalonic acidemia with homocystinuria, cobalamin C type
MMACHC
Methylmalonic acidemia with homocystinuria, cobalamin D type
MMADHC
Microphthalmia/clinical anophthalmia
VSX2
Mitochondrial DNA depletion syndrome
MPV17
Mitochondrial complex I deficiency/Leigh syndrome (NDUFAF5-related)
NDUFAF5
Mitochondrial complex I deficiency/Leigh syndrome (NDUFS6-related)
NDUFS6
Mitochondrial myopathy and sideroblastic anemia 1
PUS1
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease
TYMP
Mucolipidosis type II/III (GNPTAB-related)
GNPTAB
Mucolipidosis type III (GNPTG-related)
GNPTG
Mucolipidosis type IV
MCOLN1
Mucopolysaccharidosis type I (including Hurler, Hurler-Scheie, and Scheie syndromes)
IDUA
Mucopolysaccharidosis type II (Hunter syndrome)
IDS
Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)
SGSH
Mucopolysaccharidosis type IIIB
NAGLU
Mucopolysaccharidosis type IIIC (Sanfilippo syndrome)/retinitis pigmentosa 73
HGSNAT
Mucopolysaccharidosis type IIID (Sanfilippo syndrome)
GNS
Mucopolysaccharidosis type IVB/ GM1 gangliosidosis
GLB1
Mucopolysaccharidosis type IX
HYAL1
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)
ARSB
Multiple sulfatase deficiency
SUMF1
Myotubular myopathy, X-linked
MTM1
N-acetylglutamate synthase deficiency
NAGS
Nemaline myopathy 2
NEB
NR2E3-related conditions (including enhanced S-cone syndrome)
NR2E3
Nephrogenic diabetes insipidus (AQP2-related)
AQP2
Nephrotic syndrome/congenital Finnish nephrosis (NPHS1-related)
NPHS1
Nephrotic syndrome/steroid-resistant nephrotic syndrome (NPHS2-related)
NPHS2
Neuronal ceroid-lipofuscinosis (CLN3-related)
CLN3
Neuronal ceroid-lipofuscinosis (CLN5-related)
CLN5
Neuronal ceroid-lipofuscinosis (CLN6-related)
CLN6
Neuronal ceroid-lipofuscinosis (MFSD8-related)
MFSD8
Neuronal ceroid-lipofuscinosis (PPT1-related)
PPT1
Neuronal ceroid-lipofuscinosis (TPP1-related)
TPP1
Neuronal ceroid-lipofuscinosis/northern epilepsy (CLN8-related)
CLN8
Niemann-Pick disease type A/B
SMPD1
Niemann-Pick disease type C (NPC1-related)
NPC1
Niemann-Pick disease type C (NPC2-related)
NPC2
Nijmegen breakage syndrome
NBN
OPA3-related conditions (including 3-methylglutaconic aciduria type III/Costeff syndrome)
OPA3
Ornithine aminotransferase deficiency
OAT
Ornithine transcarbamylase (OTC) deficiency
OTC
Osteopetrosis (TCIRG1-related)
TCIRG1
POMGNT1-related disorders (including muscle eye brain disease)
POMGNT1
PRPS1-related disorders (including Charcot-Marie-Tooth disease type 5 and Arts syndrome)
PRPS1
Pendred syndrome
SLC26A4
Peroxisomal acyl-CoA oxidase deficiency
ACOX1
Phenylalanine hydroxylase deficiency (including PKU)
PAH
Phosphoglycerate dehydrogenase deficiency/Neu-Laxova syndrome
PHGDH
Polycystic kidney disease (PKHD1-related)
PKHD1
Polymicrogyria (ADGRG1-related)
ADGRG1
Pontocerebellar hypoplasia (RARS2-related)
RARS2
Pontocerebellar hypoplasia (SEPSECS-related)
SEPSECS
Pontocerebellar hypoplasia (VRK1-related)
VRK1
Postnatal progressive microcephaly with seizures and brain atrophy/infantile cerebral and cerebellar atrophy (MED17-related)
MED17
Primary carnitine deficiency
SLC22A5
Primary ciliary dyskinesia (DNAH5-related)
DNAH5
Primary ciliary dyskinesia (DNAI1-related)
DNAI1
Primary ciliary dyskinesia (DNAI2-related)
DNAI2
Primary hyperoxaluria type 1
AGXT
Primary hyperoxaluria type 2
GRHPR
Primary hyperoxaluria type 3
HOGA1
Progressive familial intrahepatic cholestasis type 2
ABCB11
Propionic acidemia (PCCA-related)
PCCA
Propionic acidemia (PCCB-related)
PCCB
Pycnodysostosis
CTSK
Pyruvate carboxylase deficiency
PC
Pyruvate dehydrogenase deficiency (PDHA1-related)
PDHA1
Pyruvate dehydrogenase deficiency (PDHB-related)
PDHB
Retinitis pigmentosa 25
EYS
Retinitis pigmentosa 26
CERKL
Retinitis pigmentosa 28
FAM161A
Rhizomelic chondrodysplasia punctata type 1/Refsum disease (PEX7-related)
PEX7
Rhizomelic chondrodysplasia punctata type 3
AGPS
Roberts syndrome
ESCO2
SLC26A2-related disorders (including diastrophic dysplasia, atelosteogenesis type 2, achondrogenesis type 1B/multiple metaphyseal dysplasia)
SLC26A2
SLC35A3-related disorder
SLC35A3
Sandhoff disease
HEXB
Schimke immuno-osseous dysplasia
SMARCAL1
Severe combined immune deficiency (DCLRE1C-related)
DCLRE1C
Severe combined immunodeficiency, X-linked (X-SCID)
IL2RG
Severe combined immunodeficiency/Omenn syndrome (RAG2-related)
RAG2
Severe congenital neutropenia (VPS45-related)
VPS45
Sialic acid storage disorders
SLC17A5
Sjögren-Larsson syndrome
ALDH3A2
Smith-Lemli-Opitz syndrome
DHCR7
Spastic paraplegia type 15
ZFYVE26
Spastic paraplegia type 49
TECPR2
Spinal muscular atrophy
SMN1
Spondylothoracic dysostosis
MESP2
Steel syndrome
COL27A1
Stüve-Wiedemann syndrome
LIFR
Tetrahydrobiopterin deficiency (PTS-related)
PTS
Transient infantile liver failure (TRMU-related)
TRMU
Tyrosine hydroxylase deficiency
TH
Tyrosinemia type I
FAH
Tyrosinemia type II
TAT
Usher syndrome type 1F/PCDH15-related disorders
PCDH15
Usher syndrome type IB
MYO7A
Usher syndrome type IC/USH1C-related disorders
USH1C
Usher syndrome type ID
CDH23
Usher syndrome type IIA/USH2A-related disorders
USH2A
Usher syndrome type IIIA
CLRN1
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency
ACADVL
WNT10A-related disorders
WNT10A
Wilson disease
ATP7B
Xeroderma pigmentosum (complementation group A)
XPA
Xeroderma pigmentosum (complementation group C)
XPC
Zellweger spectrum disorder (PEX1-related)
PEX1
Zellweger spectrum disorder (PEX10-related)
PEX10
Zellweger spectrum disorder (PEX12-related)
PEX12
Zellweger spectrum disorder (PEX2-related)
PEX2
Zellweger spectrum disorder (PEX6-related)
PEX6