Molekulargenetik

Aarskog-Scott Syndrom

FGD1

Achondrogenesie (ACG)

COL2A1, SLC26A2, TRIP11

Akrokallosales Syndrom

GLI3

Alagille Syndrom

JAG1, MLPA 20p12.2, NOTCH2

Angelman Syndrom

methylierungssensitive MLPA 15q11.2, UBE3A

ARX-assoziierte Erkrankungen

ARX

Atelosteogenesis Typ 2

SLC26A2

Autismus, nicht-syndromal

ADNP, CHD8, FOXP1, NLGN3, NLGN4X, PTCHD1, RAB39B, SHANK2

Autismus, syndromal, Basisdiagnostik

ADNP, CDKL5, EHMT1, FOXP1, MECP2, PTEN, RAI1, TCF4, UBE3A, ZEB2

Autismus, syndromal, erweiterte Diagnostik

ALDH5A1, AP1S2, ARX, ATRX, AUTS2, BRAF, CACNA1C, CASK, CHD7, CHD8, CNTNAP2, DHCR7, DPP6, FGD1, FOXG1, FOXP2, GRIN2B, HPRT1, KDM5C, L1CAM, MBD5, MED12, MEF2C, MID1, NHS, NIPBL, NLGN3, NLGN4X, NRXN1, NSD1, OPHN1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTPN11, RAB39B, SCN1A, SHANK2, SHANK3, SLC9A6, SMARCB1, SMC1A, SMC3, TSC1, TSC2, UBE2A, VPS13B

Absence-Epilepsie der Kindheit

CACNA1H, EFHC1, GABRA1, GABRB3, GABRG2, JRK, NIPA2, SLC2A1

Antithrombin-III-Mangel

SERPINC1

Abstammungsuntersuchung

Adrenogenitales Syndrom

CYP11B1, CYP17A1, CYP21A2, HSD3B2, STAR

Androgeninsensivitätssyndrom

AR

Ausschluss mütterlicher Kontamination für pränatale Proben

Azoospermiefaktor (AZF)

AZFa, AZFb, AZFc

Arrhythmogene rechtsventrikuläre Kardiomyopathie

CTNNA3, DSC2, DSG2, DSP, JUP, PKP2, RYR2, TGFB3, TMEM43

Alpers Huttenlocher Syndrom

POLG

Alzheimer-Demenz (AD)

APP, CHMP2B, FUS, GRN, ITM2B, MAPT, PRNP, PSEN1, PSEN2, SIGMAR1, TARDBP, TREM2, UBQLN2, VCP, VPS35

Amyotrophe Lateralsklerose (ALS)

ALS2, ANG, C9OFR72, CHCHD10, CHMP2B, FUS, MATR3, SCA1, SCA2, SETX, SOD1, TARDBP, TBK1, UBQLN2, VAPB, VCP

Ataxia teleangiectasia

ATM

Ataxie mit Okulomotorischer Apraxie

APTX, PIK3R5, PNKP, SETX

Alport Syndrom

CD151, COL4A3, COL4A4, COL4A5, MYH9

Adipositas

ADRB2, ADRB3, AGRP, BDNF, CARTPT, ENPP1, GHRL, LEP, LEPR, MC3R, MC4R, NR0B2, NTRK2, PCSK1, POMC, PPARG, SDC3, SIM1, UCP1, UCP3

Alpha-1-Antitrypsinmangel

SERPINA1 (PI1)

Alström Syndrom

ALMS1