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Alphabetical order

Disease Gene OMIM TAT in weeks
galactosemia1      
galactosemia GALT 606999 2-4
galactosemia GALT, GALE, GALK1 4-6
galactosemia GALT 606999 2-4
gastric cancer      
NGS APC, CDH1, CTNNA1, DOT1L, FBXO24, INSR, MAP3K6, TP53 4-8
Gaucher disease* GBA 606463 4-5
Generalized congenital lipodystrophy      
type 1 AGPAT2 603100 2-4
ghalactosialidosis1      
juvenile type CTSA 613111 2-4
Gilbert syndrome UGT1A1 191740 1-2
Gitelman syndrome SLC12A3 600968 2-4
glaucoma1,3      
- LTBP2 602091 3-4
glioma      
NGS TP53, BRCA2, POT1, PTEN, MSH2, MSH6, MLH1, PMS2, CDKN2A, CDKN2B, RTEL1, TSC1, NF1, NF2 4-8
glomerulosclerosis, focal segmental1,2,3      
- ARHGAP24 610586 2-4
- SCARB2 602257 2-4
- TTC21B 612014 2-4
FSGS1 ACTN4 604638 2-4
FSGS2 TRPC6 603652 2-4
FSGS3 CD2AP 604241 2-4
FSGS4 APOL1 603743 2-4
FSGS5 INF2 610982 2-4
FSGS6 MYO1E MYO1E 2-4
FSGS7 PAX2 167409 2-4
FSGS8 ANLN 616027 2-4
Glucocorticoid deficiency      
NGS CYP11A1, MC1R, MC2R, MCM4, MRAP, NNT, NR3C1, POMC, STAR, TXNRD2 4-6
glucocorticoid deficiency      
FGD type 1 MC2R 607397 2-4
FGD type 2 MRAP 609196 2-4
MCM4 2-4
TXNRD2 2-4
NR3C1 138040 2-4
Gluconeogenesis disorder      
NGS CA5A, FBP1, PC, PCK1, PCK2 4-6
Glucose Galactose Malabsorption      
Glucose Galactose Malabsorption SLC5A2 182381 2-4
Glucose Galactose Malabsorption SLC5A2 182381 4-6
GLUT1 deficiency syndrome 1      
infantile onset, severe SLC2A1 138140 3-4
glutaricaciduria      
type I GCDH 608801 8-12
glycine encephalopathy GLDC 238300 3-4
glycogen storage disease      
NGS AGL, FBP1, G6PC, GAA, GBE1, PHKA2, PHKB, PHKG2, PYGM, SLC2A2, SLC37A4, ALDOA, ENO3, EPM2A, FBP2, GYG1, GYG2, GYS1, GYS2, LAMP2, LDHA, LDHB, NHLRC1, PFKL, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKG1, PRKAG2, PRKAG3, PYGL 4-8
type 0 GYS2 138571 2-4
type 11 SLC2A2 138160 2-4
type 1B/1C SLC37A4/G6PT1 602671 2-4
type 1a G6PC1/G6PC 613742 2-4
type 2 GAA 606800 2-4
type 2 GAA 606800 2-4
type 3B AGL 610860 2-4
type 4 GBE1 607839 2-4
glycogen storage disease*      
NGS AGL, FBP1, G6PC, GAA, GBE1, PHKA2, PHKB, PHKG2, PYGM, SLC2A2, SLC37A4, ALDOA, ENO3, EPM2A, FBP2, GYG1, GYG2, GYS1, GYS2, LAMP2, LDHA, LDHB, NHLRC1, PFKL, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKG1, PRKAG2, PRKAG3, PYGL 4-8
type 0 GYS2 138571 2-4
type 11 SLC2A2 138160 2-4
type 1B/1C SLC37A4/G6PT1 602671 2-4
type 1a G6PC1/G6PC 613742 2-4
type 2 GAA 606800 2-4
type 2 GAA 606800 2-4
type 3B AGL 610860 2-4
type 4 GBE1 607839 2-4
glycosylation disorder1      
congenital PMM2, MPI, ALG6, ALG3, DPM1, MPDU1, ALG12, ALG8, ALG2, DPAGT1, ALG1, ALG9, DOLK, RFT1, DPM3, ALG11, SRD5A3, DDOST, ALG13, PGM1, DPM2, STT3A, STT3B, SSR4, ATP6V0A2, MAGT1, TUSC3, DHDDS, GMPPA, PGM3, NUS1 4-8
congenital B4GALT1, CCDC115, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MAN1B1, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, SLC39A8, ST3GAL3, TMEM165, TMEM199 4-8
congenital ALG1, ALG11, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, DOLK, DPAGT1, DPM1, MAGT1, MPDU1, MPI, PGM1, PGM3, PMM2, RFT1, SRD5A3, TUSC3, B4GALT1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, MGAT2, MOGS, SLC35A1, SLC35A2, SLC35C1, TMEM165 4-8
congenital, type 2 ALG9 606941 2-4
Gorlin-Goltz syndrome      
NGS PTCH1, SUFU 601309, 607035 4-6
Greig syndrome3 GLI3 165240 3-5
Gricelli syndrome1 verschiedene Gene für GS 6-10
growth hormone deficiency (GH1) GH1 139250 2-4
growth hormone deficiency (GH1, MLPA) GH1 139250 2-4
Growth hormone deficiency, type IV (GHRHR) GHRHR 139191 2-4
Gushe -Syndrome1      
X-chromosomal POU3F4 300039 2-4

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¹ We offer molecular testing for all genes known for this disease. In some cases, specific genotype - phenotype correlations exist that allow for targeted testing. Please contact us.
² We offer linkage analysis where applicable (e. g., samples available from several family members, parental consanguinity) for prioritization of genes to be tested.
³ Step-by-step analysis
All Analysis are carried out ​in Ingelheim, exceptions are those marked with *, which are carried out in ​collaborating laboratories.

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