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Dentatorubral-pallidoluysian atrophy ATN1 known gene variant testing

Alternative Names:

DRPLA
ATN1

Laboratory:

Human Molecular

Test Code:

MS DRPLA

Specimen Types:

Blood

Container Types:

EDTA 4 mL

Adults Volume or Mass:

3 mL

Minimum/Paediatric Volume or Mass:

1 mL

Collection & Request Instructions:

Dedicated container required

Transport Instructions between Sites and/or Laboratories:

Room Temperature

External Laboratory:

NSW Health Pathology, (SSWPS) - Concord Hospital

MBS Rebatable:

Yes

MBS Item No.:

73434

Billing Information:

73434

Detection of pathogenic or likely pathogenic gene variants, requested by a specialist or consultant physician, for any of the following:

(a) a patient with a suspected neuromuscular disorder, being a neuromuscular disorder with signs and symptoms associated with variants that are not detectable by massively parallel sequencing;

(b) a relative of a patient with a pathogenic or likely pathogenic germline gene variant associated with a neuromuscular disorder (confirmed by laboratory findings);

(c) the reproductive partner of a patient with a recessive pathogenic or likely pathogenic germline gene variant associated with a neuromuscular disorder (confirmed by laboratory findings)

Applicable once per gene per lifetime

Fee: $392.00 Benefit: 75% = $294.00 85% = $333.20

Additional Notes:

Informed signed consent from the patient/ parent/ guardian must be obtained prior to testing. Relevant clinical notes and Proband genetic testing report