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differential diagnosis

Histone-modification disorders

August 15 2015

Recommended panel testing at Breda Genetics for this condition: Histone-modification disorders and their differential diagnosis (incl. Wiedemann-Steiner, Kabuki, Coffin-Siris, Nicolaides-Baraitser, and Cornelia de Lange syndromes) (ARID1A, ARID1B, HDAC8, NIPBL, KMT2A, KMT2D, KDM6A, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, RAD21) Summary Histone modification is a epigenetic mechanism by which more than 100 different post-translational modifications may occur at

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Albinism & Hermansky–Pudlak syndrome

July 24 2015

Recommended panel testing at Breda Genetics for this condition: Albinism & Hermansky-Pudlak syndrome (AP3B1, BLOC1S3, BLOC1S6, C10ORF11, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, MC1R, MLPH, MITF, MYO5A, OCA2, RAB27A, SLC45A2, TYR, TYRP1) What is the skin and hair color like? Oculocutaneous albinism is characterized by hypopigmentation of the skin and hair (including brows and lashes) and

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Leigh syndrome/NARP

June 12 2015

Recommended panel testing at Breda Genetics for this condition: Leigh syndrome/NARP & their differential diagnosis (ADAR1, BCS1L, BTD, C12orf65, C20ORF7, C8ORF38, COX10, COX15, DLD, EARS2, ETHE1, FARS2, FOXRED1, GFM1, HIBCH, HLCS, LIAS, LIPT1, LRPPRC , MCEE, MMAA, MMAB, MMADHC,  MT-ATP6, MT-CO3, MTFMT, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, MT-TK, MT-TV, MT-TW, MUT, NDUFA1, NDUFA10, NDUFA11,

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Joubert and Meckel-Gruber syndromes

June 11 2015

Recommended panel testing at Breda Genetics for this condition: Joubert & Meckel-Gruber syndrome, classic (AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, INPP5E, KIF7, MKS1, NPHP1, NPHP3, OFD1, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, ZNF423) or Joubert and Meckel-Gruber syndrome, extended (AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP104, CEP290, CEP41, CSPP1, INPP5E,

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Anophthalmia and microphthalmia (isolated and syndromic)

June 11 2015

Recommended panel testing at Breda Genetics for this condition: Anophthalmia, microphthalmia isolated/syndromic (ALDH1A3, ALX1, BCOR, BMP4, COX14, COA5, CHD7, COX6B1, CRYBA4, CRYBB2, CRYGD, DPYD, ERCC6, ESCO2, EYA1, FASTKD2, FOXE3, FOXL2, FRAS1, FREM1, FREM2, GDF3, GDF6, GJA1, GLI3, HCCS, HDAC6, HESX1, HMX1, IKBKG, ISPD, KERA, KIF11, MAF, MBTPS2, MFRP, NAA10, NDP, NHS, OCLN, OTX2, PAX2, PAX6, PHGDH, POMT1,

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Congenital Myopathies

June 10 2015

Recommended panel testing at BREDA GENETICS for this condition (EXOME PANEL): Nemaline myopathy and other congenital myopathies (ACTA1, BIN1, CCDC78, CFL2, CNTN1, DNM2, FHL1, KBTBD13, MAMLD1, MTM1, MTMR14, MYF6, MYH7, NEB, RYR1, SEPN1, TNNT1, TPM2, TPM3) Making a genetic diagnosis of congenital myopathies is not easy, but it’s necessary to assess the recurrence risk. Nance JR et al

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Membranoproliferative glomerulonephritis

June 10 2015

Recommended panel testing at Breda Genetics for this condition: Dense deposit disease, membranoproliferative glomerulonephritis II, atypical hemolytic uremic syndrome & thrombotic thrombocytopenic purpura (ADAMTS13, C3, CD46, CFB, CFHR1, CFHR3, CFHR4, CFHR5, CFH, CFI, DGKE, LMNA, LCAT, THBD) A classification needed first There is a high degree of overlapping information about the genetics of membranoproliferative glomerulonephrites (MPGN)

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