IllnessFatty acid hydroxylase-associated neurodegeneration, differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Fatty acid hydroxylase-associated neurodegeneration comprising altogether 19 curated genes according to the clinical signs

FP9238

Number of genes

18 Accredited laboratory test

Examined sequence length

1,2 kb (Core-/Core-canditate-Genes)
56,1 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
FA2H	1119	611026	NM_024306.5	AR
ARSA	1530	607574	NM_000487.6	AR
ATP7B	4398	606882	NM_000053.4	AR
C19orf12	459	614297	NM_001031726.3	AR, AD
COASY	1695	609855	NM_025233.7	AR
FXN	633	606829	NM_000144.5	AR
GCH1	753	600225	NM_000161.3	AD, AR
GJC2	1320	608803	NM_020435.4	AR
HEXA	1590	606869	NM_000520.6	AR
PANK2	1713	606157	NM_153638.4	AR
PLA2G6	2421	603604	NM_003560.4	AR
PLP1	834	300401	NM_000533.5	XLR
POLR3A	4173	614258	NM_007055.4	AR
POLR3B	3402	614366	NM_018082.6	AR
SACS	13740	604490	NM_014363.6	AR
SPG11	7332	610844	NM_025137.4	AR
TUBB4A	1335	602662	NM_006087.4	AD
ZFYVE26	7620	612012	NM_015346.4	AR

Informations about the disease

Synonyms

Alias. Fatty Acid Hydroxylase-Associated Neurodegeneration (FA2H)
Alias: Spastic paraplegia 35, AR (FA2H)
Allelic: Lymphatic malformation 3 (GJC2)
Charcot-Marie-Tooth disease, axonal, type 2X (SPG11)
Dystonia 4, torsion, AD (TUBB4A)
Dystonia, DOPA-responsive, with/-out hyperphenylalaninemia (GCH1)
Friedreich ataxia (FXN)
Friedreich ataxia with retained reflexes (FXN)
GM2-gangliosidosis, several forms (HEXA)
HARP syndrome (PANK2)
Hex A pseudodeficiency (HEXA)
Hyperphenylalaninemia, BH4-deficient, B (GCH1)
Infantile neuroaxonal dystrophy 1 (PLA2G6)
Leukodystrophy, hypomyelin., 7, with/-out oligodontia and/or hypogonadotropic hypogonadism (POLR3A)
Leukodystrophy, hypomyelin., 8, with/-out oligodontia and/or hypogonadotropic hypogonadism (POLR3B)
Leukodystrophy, hypomyelinating, 2 (GJC2)
Leukodystrophy, hypomyelinating, 6 (TUBB4A)
Metachromatic leukodystrophy (ARSA)
Neurodegeneration with brain iron accumulation 1 (PANK2)
Neurodegeneration with brain iron accumulation 2B (PLA2G6)
Neurodegeneration with brain iron accumulation 4 (C19orf12)
Neurodegeneration with brain iron accumulation 6 (COASY)
Parkinson disease 14, AR (PLA2G6)
Pelizaeus-Merzbacher disease (PLP1)
Pontocerebellar hypoplasia, type 12 (COASY)
RNA polymerase III deficiency [panelapp] (POLR3C)
Spastic ataxia, Charlevoix-Saguenay type (SACS)
Spastic paraplegia 11, AR (SPG11)
Spastic paraplegia 15, AR (ZFYVE26)
Spastic paraplegia 2, XL (PLP1)
Spastic paraplegia 43, AR (C19orf12)
Spastic paraplegia 44, AR (GJC2)
Tay-Sachs disease (HEXA)
Wiedemann-Rautenstrauch syndrome (POLR3A)
Wilson disease (ATP7B)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined