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Testing of a pregnant patient, if at least one prospective parent is known to be affected by, or is a genetic carrier of, one or more conditions described in item 73453, for the purpose of determining whether a familial variant or variants are present in the fetus, if:

(a) the testing is requested by a specialist or consultant physician; and

(b) there is at least a 25% risk of the fetus inheriting a condition described in paragraph (b) of item 73453

Fee: $1,600.00 Benefit: 75% = $1,200.00 85% = $1,501.30

• Previous - Item 73454
• Next - Item 73456

Characterisation by whole genome sequencing, or by either or both whole exome sequencing and mitochondrial DNA sequencing, of germline variants present in nuclear DNA and in mitochondrial DNA of a patient with a strong suspicion of a mitochondrial disease, if:

(a) the characterisation is requested by a specialist or consultant physician; and

(b) the characterisation is requested because of the onset of one or more clinical features indicative of mitochondrial disease, including at least one or more of the following:

            (i) meeting the clinical criteria of a probable indicator of 

                 mitochondrial disease on a relevant scoring system;

            (ii) evident mitochondrial dysfunction or decompensation;

            (iii) unexplained hypotonia or weakness, profound hypoglycaemia

                  or “failure to thrive” in the presence of a metabolic acidosis;

            (iv) unexplained single or multi-organ dysfunction or fulminant

                  failure (including, but not limited to, neuropathies,

                  myopathies, hepatopathy, pancreatic and/or bone marrow

                  failure);

            (v) refractory or atypical seizures, developmental delays or cognitive

                  regression, or progressive encephalopathy or progressive

                  encephalomyopathy; 

            (vi) cardiomyopathy and/or cardiac arrythmias;

            (vii) rapid hearing or painless visual loss or ptosis;

            (viii) stroke-like episodes or nonvasculitic strokes;

            (ix) ataxia, encephalopathy, seizures, muscle fatigue or weakness;

            (x) external ophthalmoplegia;

            (xi) hearing loss, diabetes, unexplained short stature, or

                   endocrinopathy;

            (xii) family history of mitochondrial disease, or any of the above;

                   and

(c) the service is not a service associated with a service to which item 73358, 73359 or 73457 applies

Applicable only once per lifetime

Fee: $2,100.00 Benefit: 75% = $1,575.00 85% = $2,001.30

• Previous - Item 73455
• Next - Item 73457

Characterisation by whole genome sequencing, or either or both whole exome sequencing and mitochondrial DNA sequencing, of germline variants present in nuclear DNA and in mitochondrial DNA, of a patient with a strong suspicion of a mitochondrial disease, if:

(a) the characterisation is performed using a sample from the patient and a sample from each of the patient’s biological parents; and

(b) the request for the characterisation states that singleton testing is inappropriate; and

(c) the characterisation is requested by a specialist or consultant physician; and

(d) the characterisation is requested because of the onset of one or more clinical features indicative of mitochondrial disease, including at least one or more of the following:

(i) meeting the clinical criteria of a probable indicator of mitochondrial disease on a relevant scoring system;

(ii) evident mitochondrial dysfunction or decompensation;

(iii) unexplained hypotonia or weakness, profound hypoglycaemia or “failure to thrive” in the presence of a metabolic acidosis;

(iv) unexplained single or multi-organ dysfunction or fulminant failure (including, but not limited to, neuropathies, myopathies, hepatopathy, pancreatic and/or bone marrow failure);

(v) refractory or atypical seizures, developmental delays or cognitive regression, or progressive encephalopathy or progressive encephalomyopathy;

(vi) cardiomyopathy and/or cardiac arrythmias;

(vii) rapid hearing or painless visual loss or ptosis;

(viii) stroke-like episodes or nonvasculitic strokes;

(ix) ataxia, encephalopathy, seizures, muscle fatigue or weakness;

(x) external ophthalmoplegia;

(xi) hearing loss, diabetes, unexplained short stature, or endocrinopathy;

(xii) family history of mitochondrial disease; and

(e) the service is not a service associated with a service to which item 73358, 73359 or 73456 applies

Applicable only once per lifetime

Fee: $3,300.00 Benefit: 75% = $2,475.00 85% = $3,201.30

• Previous - Item 73456
• Next - Item 73458

Re-analysis of whole genome or whole exome or mitochondrial DNA data obtained in performing a service to which item 73456 or 73457 applies, for characterisation of previously unreported germline variants related to the clinical phenotype, if:

(a) the re-analysis is requested by a specialist or consultant physician; and

(b) the patient is strongly suspected of having a monogenic mitochondrial disease; and

(c) the re-analysis is performed at least 24 months after:

        (i) the service to which item 73456 or 73457 applies; or

        (ii) a service to which this item applies

Applicable twice per lifetime

Fee: $500.00 Benefit: 75% = $375.00 85% = $425.00

• Previous - Item 73457
• Next - Item 73459

Testing for diagnostic purposes of a pregnant patient, for detection in the fetus of a gene variant or variants present in the parents, if:

(a) the gene variant or variants are:

(i) a variant or variants in the mitochondrial genome identified in the oocyte donating parent; or

(ii) autosomal recessive variants identified in both biological parents within the same gene; or

(iii) an autosomal dominant or X-linked variant identified in either biological parent; or

(iv) identified in a biological sibling of the fetus; and

(b) the causative variant or variants for the condition of the fetus’ first-degree relative have been confirmed by laboratory findings; and

(c) the detection is requested by a specialist or consultant physician; and

(d) the service is not a service associated with a service to which item 73361, 73362, 73363 or 73462 applies

Fee: $1,600.00 Benefit: 75% = $1,200.00 85% = $1,501.30

• Previous - Item 73458
• Next - Item 73460

Characterisation of mitochondrial DNA deletion or variant for diagnostic purposes in a patient suspected to have mitochondrial disease, if:

(a) the characterisation is requested by the specialist or consultant physician managing the patient’s treatment; and

(b) the patient displays onset of one or more clinical features indicative of mitochondrial disease, including at least one or more of the following:

(i) meeting the clinical criteria of a probable indicator of mitochondrial disease on a relevant scoring system;

(ii) evident mitochondrial dysfunction or decompensation;

(iii) unexplained hypotonia or weakness, profound hypoglycaemia or ‘failure to thrive’ in the presence of a metabolic acidosis;

(iv) unexplained single or multi-organ dysfunction or fulminant failure (including, but not limited to, neuropathies, myopathies, hepatopathy, pancreatic and/or bone marrow failure);

(v) refractory or atypical seizures, developmental delays or cognitive regression, or progressive encephalopathy or progressive encephalomyopathy;

(vi) cardiomyopathy and/or cardiac arrythmias;

(vii) rapid hearing or painless visual loss or ptosis;

(viii) stroke-like episodes or nonvasculitic strokes;

(ix) ataxia, encephalopathy, seizures, muscle fatigue or weakness;

(x) external ophthalmoplegia;

(xi) hearing loss, diabetes, unexplained short stature, or endocrinopathy;

(xii) family history of mitochondrial disease; and

(c) the service is performed following a service to which items 73292, 73358, 73359, 73456 or 73457 applies for the same patient if the results were non-informative
Applicable 3 times per lifetime

Fee: $450.00 Benefit: 75% = $337.50 85% = $382.50

• Previous - Item 73459
• Next - Item 73461

Whole gene testing of a person for the characterisation of all germline gene variants within the same gene in which the person’s reproductive partner has a pathogenic or likely pathogenic germline recessive gene variant for mitochondrial disease, if:

(a) the partner’s germline recessive gene variant is confirmed by laboratory findings; and

(b) the characterisation is requested by a specialist or consultant physician

Fee: $1,200.00 Benefit: 75% = $900.00 85% = $1,101.30

• Previous - Item 73460
• Next - Item 73462

Testing of a person for the detection of a single gene variant, if:

(a) the person tested has a biological relative with a known pathogenic or likely pathogenic mitochondrial disease variant confirmed by laboratory findings; and

(b) the testing is requested by a specialist or consultant physician; and

(c) the service is not a service associated with a service to which item 73361, 73362 or 73363 applies

Fee: $400.00 Benefit: 75% = $300.00 85% = $340.00

• Previous - Item 73461
• Next - Item 73521